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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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Triploidy

  • Acosta A X, Peres L C, Mazzucatto L F, Pina-Neto J M.: A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism. Genet. Mol. Biol. 21:307-310, 1998.
    A premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal anomalies died at one day of age due to respiratory failure.
  • Alfi O S: Personal communication, 1978.
  • Arvidsson C G, Hamberg H, Johnsson H, Myrdal U, Anneren G, Brun A: A boy with complete triploidy and unusually long survival. Acta Paed. Scand. 75:507-510, 1986. [PubMed: 3728010]
    Patient, 001182, died after 27 weeks; extra genom was maternally derived.
    69,XXY.
  • Ban Z, Nagy B, Papp C, Toth-Pal E, Papp Z.: Rapid diagnosis of triploidy of maternal origin using fluorescent PCR and DNA fragment analysis in the third trimester of pregnancy. Prenat. Diag. 22:984-987, 2002. [PubMed: 12424761]
    69,XXX
    Ultrasound findings led to cytogenetic examination at 31 weeks gestation.
    Index Terms: F-PCR
  • Baumer A, Balmer D, Binkert F, Schinzel A.: Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Europ. J. Hum. Genet. 8:911-917, 2000. [PubMed: 11175278]
    69,XXX and 69,XXY.
    20 cases were maternal and 5 paternal in origin. Among the digynic cases 10 were inferred to be due to error at meiosis I and the other 10 due to errors at meiosis II. All the diandric cases were due to dispermy.
  • Beatty R A: The origin of human triploidy: an integration of qualitative and quantitative evidence. Ann. Hum. Genet. 41:299-314, 1978. [PubMed: 626475]
    It is concluded that the bulk of triploidy arises near the time of fertilization, diandric triploidy (two paternal sets) is more common (59-93%), and dispermy is commoner than diplospermy.
  • Benacerraf B R: Intrauterine growth retardation in the first trimester associated with triploidy. J. Ultrasound Med. 7:153-154, 1988. [PubMed: 3280825]
    Benacerraf B R, Saltzman D H, Estroff J A, Frigoletto F D: Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. Obst. Gynecol. 75:312-319, 1990. [PubMed: 2304703]
    22 fetuses with omphalocele were retrospectively studied. One out of four aneuploids was a triploid.
    Index Terms: Omphalocele
  • Bendon R W, Siddiqi T, Soukup S W, Srivastava A: Prenatal detection of triploidy. J. Ped. 112:149-153, 1988. [PubMed: 3275764]
    Several anomalies were detected on an ultrasound examination including thick placenta, small echolucencies.
    mos46,XY/69,XXY.
  • Benoist M, Lorenzato M, Doco M, Pigeon F, Lallemand A, Gaillard D.: DNA quantification and triploidy phenotype during second and third trimesters of gestation. Ann. Pathol. (Fr.) 14:234-239, 1994. [PubMed: 7916750]
    16/23 cases studied were triploids (12 by karyotype). 10 were partial hydatidiform moles and 6 hypotrophic or normal fetuses and placentas. DNA index in 6 of these was near 1.5 confirming the validity of this technique. DNA analysis identified 4/11 cases by phenotype.
  • Bieber F R, Nance W E, Morton C C, Brown J A, Redwine F O, Jordan R L, Mohanakumar T: Genetic studies of an Acardiac monster: Evidence of polar body twinning in man. Science 213:775-777, 1981. [PubMed: 7196086]
    Chromosome and histocompatibility markers were used to identify two maternally derived chromosome sets in the first-meiotic-division polar body fertilized by a normal haploid sperm resulting in one twin. The twins arose as a result of independent fertilizations.
  • Blackburn W R, Miller W P, Superneau D W, Cooley N R, Zellweger H, Wertelecki W: Comparative studies of infants with mosaic and complete triploidy: an analysis of 55 cases. BD-OAS XVIII(No. 3B):251-274, 1982. [PubMed: 6753965]
  • Blackwell N L, Keeling J W, Lindenbaum R H: Dispermic origin of a 69, XXY triploid. Hum. Genet. 37:121-124, 1977. [PubMed: 881191]
    The infant with multiple anomalies died at 1 hour forty minutes. Presence of a pair of 21s with giant satellites in the patient and in the father one 21 was similarly satellited, suggested a dispermic origin of the triploidy.
  • Bocian M, Karp L E, Mohandas T K, Sarti D, Lachman R S, Wisot A: Intrauterine diagnosis of triploidy: The use of radiologic and ultrasonographic techniques in conjunction with amniocentesis. AJMG 1:323-332, 1978. [PubMed: 677172]
    69,XXY.
  • Book J A, Masterson J G, Santesson B: Malformation syndrome associated with triploidy-further chromosome studies of the patient and his family. Acta Genet. Statis. Med. Gemellol. 12:193-201, 1962. [PubMed: 13968911]
    Book J A, Santesson B: Malformation syndrome in man associated with triploidy (69 chromosomes). Lancet i:858-859, 1960. [PubMed: 13802657]
    mos69,XXY/46,XY.,This is the first report of a triploid state in humans.
  • Byrne J, Warburton D, Kline J, Blanc W, Stein Z: Morphology of early fetal deaths and their chromosomal characteristics. Teratology 32:297-315, 1985. [PubMed: 4049288]
  • Callen D F, Fernandez H, Hull Y J, Svigos J M, Chambers H M, Sutherland G R: A normal 46,XX infant with a 46,XX/69,XXY placenta: a major contribution to the placenta is from a resorbed twin. Prenat. Diag. 11:437-442, 1991. [PubMed: 1754560]
    Index Terms: Twin ... resorbed,Placenta
  • Cameron M, Cumming G, Smith P.: A conundrum from antenatal testing. Postgrad. Med. J. 79:478-479, 2003. [PMC free article: PMC1742768] [PubMed: 12954966]
    46,XX/69,XXX
  • Carakushansky G, Teich E, Ribeiro M G, Horowitz D D G, Pellegrini S.: Diploid/triploid mosaicism: further delineation of the phenotype. AJMG 52:399-401, 1994. [PubMed: 7747751]
    mos46,XX(57%)/69,XXX(43%) in 120 lymphocyte cultured cells.
    Patient was followed up to age 5 years. Absence of growth retardation despite severe psychomotor developmental delay was noted.
  • Cassidy S B, Whitworth T, Sanders D, Lorber C A, Engel E: Five month extrauterine survival in a female triploid (69,XXX) child. Ann. Genet. 20:277-279, 1977. [PubMed: 305757]
    Case T. K. in this report. No post-mortem examination was made. No polymorphisms were found in the parental genomes.
  • Castel Y, Riviere D, Toudic L, Alix D, Leroy J P: A case of complete triploidy (69,XXY) in a premature baby. Presence of a clinical syndrome characteristic of this chromosome abnormality. Ann. Ped. 23:639-645, 1976. [PubMed: 16106892]
    Case Frederic A (170675) in this report.
    It is suggested that complete triploidy may be distinguished by the characteristic association of the following major signs: syndactyly of the 3rd and 4th fingers, posterior fontanelle large size, sexual ambiguity, placenta presenting molar degeneration.
    Index Terms: Fontanelles ... posterior, large,Placenta ... molar degeneration,Polyploidy,Sex-ambiguity,Still born (premature),Syndactyl(y)(ia),Triploidy
  • Castori M, Silvestri E, Nunnari J, Grammatico P, Dallapiccola B.: A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma. AJMG Part A: 143A: 1391-1393, 2007. [PubMed: 17497722]
    Index Terms: Holoprosencephaly-diencephalic hamartoblastoma
  • Cavalcanti D P, Ferrari I, Pinto W, Jr: Chromosomal analysis of 52 spontaneous abortuses in Brazil. Brazil. J. Genet. 11:149-154, 1988.
  • Chia C M, Chan W B, Quah E, Cheng L C.: Triploid pregnancy after ICSI of frozen testicular spermatozoa into cryopreserved human oocytse: case report. Hum. Reprod. 15:1962-1964, 2000. [PubMed: 10966995]
    69,XXY,t(5;6)(p?15;q?15).
    The pregnancy ended in a missed abortion after 9 weeks.
    Index Terms: ICSI & Triploidy
  • Christensen B, Bryndorf T, Philip J, Lundsteen C, Hansen W: Rapid prenatal diagnosis of trisomy 18 and triploidy in interphase nuclei of uncultured amniocytes by non-radioactive in situ hybridization. Prenat. Diag. 12:241-250, 1992. [PubMed: 1614982]
  • Claussen U, Ulmer R, Beinder E, Voigt H J: Six years'' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype. Prenat. Diag. 14:113-121, 1994. [PubMed: 8183848]
    17/804 cases. Anomalies included polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects.
    Index Terms: Polyhydramnios,Oligohydramnios,Gastroschisis,Omphalocele
  • Cobet G, Porstmann T, Wietschke R, Bollmann R, Abet L, Bartho S, Lehmann K: Diagnose einer fetalen triploidie durch quantfizierung der superoxiddismutase. Z. Klin. Med. 46:435-438, 1991.
    69,XXX.
    A case of fetal triploidy is described which was detected because of the elevated level of SOD-1.
    Index Terms: Superoxide dismutase
  • Coerdt W, Rehder H, Gebauer H J, Holzgreve W, Klink F, Miny P, Schulze B: Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks'' gestation. Prenat. Diag. 8:647-659, 1988. [PubMed: 2974956]
    Case 3.
    68,XXX.
    Case 5.
    69,XXY
  • Cohen D, Bragos I, Berta C, Fodor M, Alonso E, Nasio C, Kreiman L, Pineda R: Rapid karyotyping in ectopic pregnancies. Prenat. Diag. 13:349-353, 1993. [PubMed: 8341632]
    78 ectopic Fallopian tube pregnancies during 1987-1991 were studied.
    Ten pregnancies, five mosaic, were triploid.
    Index Terms: Ectopic pregnancies
  • Couillin P, Boue A, Boue J, Ravise N, Feingold N, Hors J: HLA markers in parents of triploid conceptuses. Path. Biol. 25:647-650, 1977. [PubMed: 341054]
    Couillin P, Hors J, Boue J, Boue A: Identification of the origin of triploidy by HLA markers. Hum. Genet. 41:35-44, 1978. [PubMed: 631859]
    Couillin P, Ravise N, Afoutou J M, Chaibi R, Azoulay M, Hors J, Oury J F, Boue J, Boue A: HLA and molar pregnancies (triploidies, hydatidiform moles, choriocarcinoma). Etiological and epidemiological studies. Ann. Genet. 30:197-208, 1987. [PubMed: 3501264]
    With HLA-A and HLA-B markers informative data on the origin of triploidy were obtained in eight cases confirming that triploidy involved more frequently two sets of paternal chromosomes. Diandry I or dispermy in 4 cases, diandry II or dispermy in 2, and digymy I or II in 2.
  • Cowles T A, Elder F F B, Taylor S.: Identification of abnormal chromosomal complement in formalin-fixed, paraffin-embedded placental tissue. Prenat. Diag. 15:21-26, 1995. [PubMed: 7739993]
    An useful technique.
    Index Terms: FISH ... Paraffin-embedded tissue
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    69,XXX.
    All five had numerous other associated malformations.
  • Daniel A, Wu Z, Bennetts B, Slater H, Osborn R, Jackson J, Pupko V, Nelson J, Watson G, Cooke-Yarborough C, Loo C.: Karyotype, phenotype and parental origin in 19 cases of triploidy. Prenat. Diag. 21:1034-1048, 2001. [PubMed: 11746161]
    Daniel A, Wu Z, Darmanian A, Collins F, Jackson J.: Three different origins for apparent triploid/diploid mosaics. Prenat. Diag. 23:529-534, 2003. [PubMed: 12868076]
    4 cases were studied.
    Case 1=46,XX/69,XXX.,Case 2=46,XX/69,XXY.,Case 3=47,XY,+16/69,XXY.,Case 4=46,XX/69,XXY.
    Three different mechanisms for mosaic diploid/triploid are proposed: i) chimaerism with karyotypes from two separate zygotes developing into a single individual, ii) delayed digyny, by incoproration of a pronucleus from a second polar body into one embryonic blastomere, and iii) delayed dispermy by incorporation of a second sperm pronucleus into one embryonic blastomere.
  • Dean J, Cohen G, Kemp J, Robson L, Tembe V, Hasselaar J, Webster B, Lammi A, Smith A.: Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child. J. Med. Genet. 34:246-249, 1997. [PMC free article: PMC1050902] [PubMed: 9132499]
    mos69,XXX/47,XX,+15
    The patient came to attention because of macrocytosis and died at the age of 3 years and 8 months.
  • de Graaf I M, van Bezouw S M C A, Jakobs M E, Leschot N J, Zondervan H A, Bilardo C M, Hoovers J M N.: First-trimester non-invasive prenatal diagnosis of triploidy. Prenat. Diag. 19:175-177, 1999. [PubMed: 10215078]
    69,XXX
    Diagnosis of triploidy was made by FISH technique in maternal circulating blood cells.
  • Dewald G W, Alvarez M N, Cloutier M D, Kelalis P P, Gordon H: A diploid-triploid human mosaic with cytogenetic evidence of double fertilization. Clin. Genet. 8:149-160, 1975. [PubMed: 240527]
    mos46,XX/69,XXY.,It is hypothesized that double fertilization occurred. Data obtained from marker chromosomes.
  • Dietzsch E, Ramsay M, Christianson A L, Henderson B D, de Ravel T J L.: Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses. AJMG 58:360-364, 1995. [PubMed: 8533847]
    6 cases were studied.
    69,XXX or XXY.
    Gestational ages were from 30 to 37 weeks of these type II triploids.
    26 polymorphic markers were used.
  • Dormeier A, Kuffer E, Schurz B, Egarter Ch.: Serum screening in complete triploidy 69,XXX. Prenat. Diag. 16:578, 1996. [PubMed: 8809905]
    Case ascertained because of an increased beta-hCG level and oligohydramnios.
    Index Terms: Serum screening
  • Doshi N, Surti U, Szulman A E: Morphologic anomalies in triploid liveborn fetuses. Hum. Path. 14:716-723, 1983. [PubMed: 6683705]
  • Eiben B, Hammans W, Goebel R.: Triploidy, imprinting, and hCG levels in maternal serum screening. Prenat. Diag. 16:377-378, 1996. [PubMed: 8734819]
    Ten cases were studied. Three had maternal origin of the extra set and seven had paternal origin. In cases where the origin was paternal, a very high concentration of hCG, and large placenta was detected.
    Index Terms: Imprinting,hCG level
  • English C J, Atkey N W S, Linton G, Napier C J, cameron H M, Mason G C, Murray B J.: An unusual case of trisomy and triploidy in a chorion villus biopsy. Prenat. Diag. 20:917-920, 2000. [PubMed: 11113896]
    cvs direct=47,XX,+6.,cvs culture and postmortem placenta=mos46,XX/47,XX,+6/69,XXX.,fetal skin and muscle=69,XXX.
    Pregnancy was terminated after 18 weeks following cvs direct and ultrasound examination.
  • Faix R G, Barr M, Jr, Waterson J R: Triploidy: case report of a live-born male and an ethical dilemma. Pediatrics 74:296-299, 1984. [PubMed: 6462831]
    Patient died after 127 days.
    69,XXY.
  • Feuchtbaum L B, Cunningham G, Waller D K, Lustig L S, Tompkinson D G, Hook E B.: Fetal karyotyping for chromosome abnormalities after an unexplained elevated maternal serum alpha-fetoprotein screening. Obst. Gynecol. 86:248-254, 1995. [PubMed: 7542378]
    When a cutoff rate of 2.5 MOM or greater in elevated MSAFP is used, a higher rate of chromosomally abnormal fetuses is seen.
    Index Terms: MSAFP
  • Flori E, Doray B, Rudoff G, Favre R, Girard-Lemaire F, Schluth C, Zix-Kieffer I, Flori J, Loriot M, Schmitt E, Rumpler Y.: Failure of prenatal diagnosis of diploid-triploid mosaicism after amniocentesis. Clin. Genet. 63:328-331, 2003. [PubMed: 12702170]
  • Forrestor M B, Merz R D.: Epidemiology of triploidy in a population-based birth defects registry, Hawaii, 1986-1999. AJMG DOI=10.1002.a.20152, 2003. [PubMed: 12784300]
    Hassold T J: A cytogenetic study of repeated spontaneous abortions. AJHG 32:723-730, 1980. [PMC free article: PMC1686106] [PubMed: 7424911]
    Hassold T J, Matsuyama A, Newlands I M, Matsuura J S, Jacobs P A, Manuel B, Tsuei J: A cytogenetic study of spontaneous abortions in Hawaii. Ann. Hum. Genet. 41:443-454, 1978. [PubMed: 655633]
    69,XXX and 69,XXY triploids.,92,XXYY and 92,XXXX tetraploids.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Polyploidy,Tetraploidy,Triploidy
  • Freeman S B, Priest J H, MacMahon W C, Fernhoff P M, Elsas L J: Prenatal ascertainment of triploidy by maternal serum alpha-fetoprotein screening. Prenat. Diag. 9:339-347, 1989. [PubMed: 2471183]
    It is concluded that for optimal prenatal detection of triploidy, fetal karyotyping should be included when an amnioncentesis is performed for elevated MSAFP.
  • Fritz B, Hallermann C, Olert J, Fuchs B, Bruns M, Aslan M, Schmidt S, Coerdt W, Muntefering H, Rehder H.: Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions. Europ. J. Hum. Genet. 9:539-547, 2001. [PubMed: 11464246]
    Triploidy rate was 17.1%.
    In 57/60 cases CGH was successful. It is suggested that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.
    Index Terms: CGH
  • Fryns J P, Kleczkowska A, Kubien E, Van Den Berghe H: Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients. Acta Paed. Scand. Suppl. 313:1-23, 1984. [PubMed: 6241420]
    Fryns J P, van de Kerckhove A, Goddeeris P, van den Berghe H: Unusually long survival in a case of full triploidy of maternal origin. Hum. Genet. 38:147-155, 1977. [PubMed: 908561]
    Fryns J P, Vinken L, Geutjens J, Marien J, Deroover J, van den Berghe H: Triploid-Diploid mosaicism in a deeply mentally retarded adult. Ann. Genet. 23:232-234, 1980. [PubMed: 6971602]
    Patient was 21 years old.
    mos46,XX/69,XXX.
    Survival up to 2 months is reported. Case D. C., a female in this report.
  • Galan F, Orts F, Aguilar M S, Clemente F, Loeda C, Aranda I, Cobo B J: 69,XXX karyotype in a malformed liveborn female: maternal origin of triploidy. Ann. Genet. 34:37-39, 1991. [PubMed: 1952791]
    Baby died 7 days after birth.
  • Garnham I, Fernandez H, Callen D F, Haan E A, Sutherland G R: Discordance between direct and PHA-stimulated chromosome preparations from neonates. Clin. Genet. 45:277-280, 1994. [PubMed: 7923854]
    Case 2:
    46,XX/69,XXX.
  • Gassner R, Metzenbauer M, Hafner E, Vallazza U, Philipp K.: Triploidy in a twin pregnancy: small placenta volume as an early sonographic marker. Prenat. Diag. 23:16-20, 2003. [PubMed: 12533806]
    Small placental volume lead to an early detection (12 weeks) and termination of the triploid twin.
    69,XXX.
    Index Terms: Triploidy-twin-small placenta
  • Genest D R, Roberts D, Boyd T, Bieber F R.: Fetoplacental histology as a predictor of karyotype: a controlled study of spontaneous first trimester abortions. Hum. Pathol. 26:201-209, 1995. [PubMed: 7860050]
    The authors conclude that although certain histological features are associated with first trimester SABs, they are not good predictors of an abnormal karyotype in them.
    Index Terms: Fetoplacental histology
  • Gersen S L, Carelli M P, Klinger K W, Ward B E.: Rapid prenatal diagnosis of 14 cases of triploidy using FISH with multiple probes. Prenat. Diag. 15:1-5, 1995. [PubMed: 7739991]
    Fetal anomalies were seen by ultrasound and 13 specimen were sent between 16 and 23 weeks of gestation.
    Index Terms: FISH
  • Giurgea I, Sanlaville D, Fournet J-C, Sempoux C, Bellanne-Chantelot C, Touati G, Hubert L, Groos M-S, Brunelle F, Rahier J, Henquin J-C, Dunne M J, Jaubert F, Robert J-J, Nihoul-Fekete C, Vekemans M, Junien C, de Lonlay P.: Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J. Med. Genet. 43: 248-254, 2006. [PMC free article: PMC2563246] [PubMed: 16033916]
    Index Terms: Congenital hyperinsulinism
  • Golubovsky M D.: Postzygotic diploidization of triploids as a source of unusual cases of mosaicism, chimerism and twinning. Hum. Reprod. 18:236-242, 2003. [PubMed: 12571155]
    A very intresting discussion on the topic of postzygotic diploidization of triploids (PDT)!
    Index Terms: Postzygotic diploidization of triploids (PDT)
  • Gosden C M, Wright M O, Paterson W G, Grant K A: Clinical details, cytogenetic studies, and cellular physiology of a 69,XXX fetus, with comments on the biological effect of triploidy in man. J. Med. Genet. 13:371-380, 1976. [PMC free article: PMC1013443] [PubMed: 1034015]
    A spontaneously aborted fetus at 26 weeks gestation had multiple abnormalities including syndactyly of the hands and feet, single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia and postpartum hemorrhage.
    Index Terms: Adrenal hyperplasia,Foot ... anomalies,Hand ... anomalies,Hydatidiform mole,Muscles ... of thigh, hypertrophy,Ovarian ... dysgenesis,Polyploidy,Syndactyl(y)(ia),Triploidy
  • Gouyon J B, Kamp A, Couillault G, Turc-Carel C, Nivelon-Chevallier A, Alison M, Feldman J P: Triploidie homogene chez deux prematures (69 XXY). J. Genet. Hum. 31:317-321, 1983. [PubMed: 6663290]
    Index Terms: Still born (premature)
  • Graham J M, Jr, Hoehn H, Lin M S, Smith D W: Diploid-triploid mixoploidy: clinical and cytogenetic aspects. Pediatrics 68:23-28, 1981. [PubMed: 6264378]
    Patient D. K., was 19 months old, in whom both X-chromosomes were active, had some features of Russell-Silver syndrome, with asymmetric growth.
    Skin: mos46,XY/49,XXY; blood: 46,XY.
    Index Terms: Russell-Silver syndrome
  • Graham J M, Jr, Rawnsley E F, Simmons G M, Wurster-Hill D H, Park J P, Marin-Padilla M, Crow H C: Triploidy: Pregnancy complications and clinical findings in seven cases. Prenat. Diag. 9:409-419, 1989. [PubMed: 2762233]
    Cases 1 through 7.
    69,XXX or XXY.
    Fetuses with major central nervous system abnormalities (spina bifida aperta, holoprosencephaly) and anterior abdominal wall defects were experienced.
  • Harper M A, Ruiz C, Pettenati M J, Rao P N: Triploid partial molar pregnancy detected through maternal serum alpha-fetoprotein and HCG screening. Obst. Gynecol. 83:844-846, 1994. [PubMed: 7512706]
    69,XXX.
    Index Terms: hCG screening,MSAFP
  • Hasegawa T, Harada N, Ikeda K, Ishii T, Hokuto I, Kasai K, Tanaka M, Fukuzawa R, Niikawa N, Matsuo N.: Digynic triploid infant surviving for 46 days. AJMG 87:306-310, 1999. [PubMed: 10588835]
    69,XXX
    The patient''s clinical manifestations, compatible with type II triploidy, included IUGR, relative macrocephaly, and small, noncystic placenta.
  • Horiuchi I, Hashimoto T, Tsuji Y, Shimada H, Furuyama J I, Koyama K.: Direct assessment of triploid cells in mosaic human fetuses by fluorescence in-situ hybridization. Mol. Hum. Reprod. 3:445-450, 1997. [PubMed: 9239730]
    4/30 cases of spontaneous abortions had 2-12% cells with three signals of D17Z1 or D4Z1.
  • Huang B, Prensky L, Thangavelu M, Main D, Wang S.: Three consecutive triploidy pregnancies in a woman: genetic predisposition? Europ. J. Hum. Genet. 12:985-986, 2004. [PubMed: 15367916]
    Third pregnancy=69,XXX.,First and second pregnancies=69,XXY
    Maternal meiotic error was demonstrated.
  • Jacobs P A, Angell R R, Buchanan I M, Hassold T J, Matsuyama A, Manuel B: The origin of human triploids. Ann. Hum. Genet. 42:49-57, 1978. [PubMed: 686684]
    Jacobs P A, Matsuyama A M, Buchanan I M, Wilson C: Late replicating X chromosomes in human triploidy. AJHG 31:446-457, 1979. [PMC free article: PMC1685892] [PubMed: 484553]
    Jacobs P A, Szulman A E, Funkhouser J, Matsuura J S, Wilson C C: Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann. Hum. Genet. 46:223-231, 1982. [PubMed: 7125594]
    17 of the 21 triploids were paternal in origin; in the other three it was maternal.
  • Jamieson M E, Coutts J R T, Connor J M: The chromosome constitution of human preimplantation embryos fertilized in vitro. Hum. Reprod. 9:709-715, 1994. [PubMed: 8046027]
    Index Terms: Preimplantation embryos
  • Jarvela I E, Salo M K, Santavuori P, Salonen R K: 46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty. J. Med. Genet. 30:966-967, 1993. [PMC free article: PMC1016611] [PubMed: 8301657]
    mos46,XX/69,XXX.
    Patient was 20 months old.
    Index Terms: Mixoploid
  • Jauniaux E, Brown R, Rodeck C, Nicolaides K H.: Prenatal diagnosis of triploidy during the second trimester of pregnancy. Obst. Gynecol. 88:983-989, 1996. [PubMed: 8942839]
    70 cases were studied.
    Partial molar changes, asymmetrical growth restriction (71.4%), and abnormalities of the hands (52.3%), were seen in periods from 13 weeks to 29 weeks of gestation.
    Index Terms: Prenatal ... diagnosis of triploidy
  • Jauniaux E, Brown R, Snijders R J M, Noble P, Nicolaides K H.: Early prenatal diagnosis of triploidy. Am. J. Obstet. Gynecol. 176:550-554, 1997. [PubMed: 9077605]
    18/58,862 cases were found.
    Fetal defects were observed in 8/18 cases (44.4%). Holoprosencephaly (n=4); exomphalos (n=3), and posterior fossa cyst (n=1). In 6 cases the placenta showed molar changes. MSAFP was high in 11/13 cases.
    The role of ultrasonography and MSAFP was investigated giving an incidence of 1 in 3270.
    Index Terms: Early prenatal diagnosis,Holoprosencephaly,exomphalos
  • Johnson M P, Drugan A, Uhlmann W R, Evans M I: Postmortem chorionic villus sampling is a better method for cytogenetic evaluation of early fetal loss than culture of abortus material. Am. J. Obst. Gynecol. 163:1505-1510, 1991. [PubMed: 2240097]
    Index Terms: Postmortem CVS
  • Junien C, Rubinson H, Dreyfus J C, Meienhofer M C, Ravise N, Boue J, Boue A: Gene dosage effect in human triploid fibroblasts. Hum. Genet. 33:61-66, 1976. [PubMed: 939558]
    Assays for X-linked enzymes together with cytogenetic observations support the contention that two X chromosomes were active in the triploid lines.
  • Kaffe S, Eliasen C, Wan L, Charles N, Jansen V, Greco M A, Hsu L Y F: A rare case of 68,XX triploidy diagnosed by amniocentesis. Prenat. Diag. 9:857-861, 1989. [PubMed: 2626411]
    68,XX.
    At termination the 21 week fetus had multiple anomalies compatible with triploidy syndrome characteristics.
  • Kajii T, Niikawa N: Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers. Cytogenet. Cell Genet. 18:109-125, 1977. [PubMed: 558867]
    Kajii T, Ohama K, Mikamo K: Anatomic and chromosomal anomalies in 944 induced abortuses. Hum. Genet. 43:247-258, 1978. [PubMed: 700699]
    Sixteen triploids and one tetraploid abortuses were studied. One originated in the maternal first meiotic division, five apparently resulted from dispermy; two derived from an error during either the paternal second meiotic division or first mitotic division; and two were of paternal origin.
    7 subjects with triploidy were found.
  • Kaufman M H: New insights into triploidy and tetraploidy, from an analysis of model systems for these conditions. Hum. Reprod. 6:8-16, 1991. [PubMed: 1874961]
  • Kazazian L C, Baramki T A, Thomas R L: Triploid fetus: an important consideration in the evaluation of very high maternal serum alpha-protein. Prenat. Diag. 9:27-30, 1989. [PubMed: 2473468]
    Index Terms: AFP
  • Kennerknecht I, Barbi G, Wolf M, Djalali M, Grab D, Terinde R, Vogel W: Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high or very-low-risk pregnancies. Prenat. Diag. 13:929-944, 1993. [PubMed: 8309900]
    Case No. 1060.
    Blood & Fibroblasts:69,XXY.
    There were suspicious ultrasound findings and a still born birth at 39th week with 760g. weight.
    CVS short term culture and placental tissue showed 46,XY and 92,XXYY chromosomes.
    Index Terms: CVS
  • Kjaer I, Keeling J W, Smith N M, Hansen B F.: Pattern of malformations in the axial skeleton in human triploid fetuses. AJMG 72:216-221, 1997. [PubMed: 9382146]
    10 with 69,XXX and 5 with 69,XXY chromosomes and between 14-29 weeks of gestation were studied.
    Vertebral fusions were seen in 6/15 and clefts of vertebral bodies are not demonstrated.
    Index Terms: Skeletal axial malformation
  • Kleinebrecht J, Geisler M: Chromosomen aberrationen als Ursache des Spontanabortus. Z. Allgem. 22:974-977, 1975. [PubMed: 1166668]
    Triploidy and tetraploidy were found.
  • Klouda P T, Donnai D, Harris R: HLA study in a live-born infant with triploidy of paternal origin. Tissue Antigens 17:240-242, 1981. [PubMed: 7233419]
    The male infant had a large posterior fontanelle, prominent widely spaced eyes, a large nose with a depressed nasal bridge, atrial septal defect, hypoplastic thymus, cystic dysplastic kidneys and because of hypoglycemia and severe jaundice, the patient died at age of 64 hours.
    Index Terms: Cystic dysplasia,Eye ... wide-set,Fontanelles ... posterior, large,Hypoglycemia,Jaundice,Kidney ... malformations,Polyploidy,Triploidy,Thymic ... hypoplasia
  • Kohn G, Zamir R, Zer T, Amiel A, Fejgin M: Significance of very low maternal serum human chorionic gonadotropin in prenatal diagnosis of triploidy. Prenat. Diag. 11:277-278, 1991. [PubMed: 1896414]
    Cases 1 and 2.
    69,XXX.
    Index Terms: Maternal ... serum chorionic gonadotropin
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    69,XXX and 69,XXY.
  • Kuliev A M: Relationship between anomalies of phenotype and karyotype in human embryogenesis. Genetika 8:140-153, 1972. [PubMed: 4424716]
  • Lambert D M, Watters G, Andermann F, Der Kaloustian V M.: Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy. AJMG 10.1002/ajmg.10074, 2001. [PubMed: 11754073]
    Skin (right arm)=41% in 70 cells and blood=0.5% in 200 cells. None in left arm skin in 15 cells counted.
    MIM#: 604257
    Index Terms: Camera-Marugo-Cohen syndrome
  • Lambert J C, Philip P, Charpentier G, Ferrari M, Donzeau M, Ayraud N: Triploidy with cyclopia and identical HLA alleles in the parents. J. Med. Genet. 21:63-66, 1984. [PMC free article: PMC1049211] [PubMed: 6607355]
    Index Terms: Cyclop(ia)(s)
  • Lauritsen J G, Bolund L, Friedrich U, Therkelsen A J: Origin of triploidy in spontaneous abortuses. Ann. Hum. Genet. 43:1-5, 1979. [PubMed: 496390]
    14 triploids were found in 288 consecutive abortuses. The origin of the extra set was determined in 12 of the triploids: six cases of dispermy, five failures in the first maternal and one failure in the first paternal meiotic division.
  • Lewis P E, Cefalo R C: Triploidy syndrome with theca lutein cysts and severe pre-eclampsia. Am. J. Obst. Gynecol. 133:110-111, 1979. [PubMed: 760530]
  • Lim A S T, Lim T H, Kee S K, Chieng R, Tay S K.: Sperm segregation patterns by fluorescence in situ hybridization studies of a 46,XY,t(2;6) heterozygote giving rise to a rare triploid product of conception with a 69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p12;q24)pat karyotype. AJMG DOI=10.1002/ajmg.10893, 2002. [PubMed: 12567417]
    69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p12;q24)pat.
  • Lin C C, De Braekeleer M, Jamro H: Cytogenetic studies in spontaneous abortion: the Calgary experience. Canad. J. Genet. Cytol. 27:565-570, 1985. [PubMed: 4063875]
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Polyploidy,Triploidy
  • Lin H J, Schaber B, Hashimoto C H, Barajas L, Beall M H, Lachman R S.: Omphalocele with absent radial ray (ORR): a case with diploid-triploid mixoploidy. AJMG 75:235-239, 1998. [PubMed: 9475588]
    32% triploidy by flow cytometry.
    Stillborn at 22 weeks with MCA including omphalocele, absence of radii, hypoplasia of one humerus, a hemivertebra, and syndactyly.
    Index Terms: Omphalocele,Radial ray absent (ORR)
  • Macas E, Suchanek E, Grizelj V, Puharic I, Simunic V: Chromosomal preparations of human triploid zygotes and embryos fertilized in vitro. Europ. J. Obst. Gynecol. Reprod. Biol. 29:299-304, 1988. [PubMed: 3229544]
  • Maraschio P, Danesino C, Locurto F, Zuffardi O, Dalla Fior T, Pedrotti D: A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage. Ann. Genet. 27:96-101, 1984. [PubMed: 6331797]
    Patient CMA, 001281, survived 45 days.
  • Ma S, Kalousek D K, Yuen B H, Moon Y S.: The chromosome pattern of embryos derived from tripronuclear zygotes studied by cytogenetic analysis and fluorescence in situ hybridization. Fert. Steril. 63:1246-1250, 1995. [PubMed: 7750595]
    Five (27.8%) by FISH and seven (28%) were triploid by standard cytogenetic analysis.
    Index Terms: Embryos ... Tripronuclear zygotes
  • Ma S, Kalousek D K, Zouves C, Yuen B H, Gomel V, Moon Y S: The chromosomal complements of cleaved human embryos resulting from in vitro fertilization. J. IVF. Emb. Transf. 7:16-21, 1990. [PubMed: 2338510]
    Material came from 14 patients.
    69,XYY.
    The study confirms that tripronuclear zygotes may develop into triploid embryos. A single pronucleus correlates with a haploid set. There is an unusually high incidence of chromosomal defects in morphologically abnormal preimplantation embryos.
    Index Terms: IVF,Preimplantation embryos,Tripronuclear,Pronucleus
  • McCormack B J, Singh P S, Paul J, Sr, Joseph A, Borgaonkar D S, Kaminski P F, Bradfield J E, Bartoshesky L E, Keena B.: Triploidy and homozygous inverted 9s in spontaneous abortions. J. Assoc. Genet. Technolog. 24:150, 1998.
    Case1: 69,XXY,inv(9),inv(9).,Case 2: 69,XXX,inv(9),inv(9).
  • McFadden D E, Jiang R, Langlois S, Robinson W P.: Dispermy--origin of diandric triploidy. Hum. Reprod. 17:3037-3038, 2002. [PubMed: 12456599]
    McFadden D E, Kalousek D K: Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. AJMG 38:535-538, 1991. [PubMed: 2063893]
    McFadden D E, Kwong L C, Yam I Y L, Langlois S: Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum. Genet. 92:465-469, 1993. [PubMed: 7902318]
    McFadden D E, Langlois S.: Parental and meiotic origin of triploidy in the embryonic and fetal periods. Clin. Genet. 58:192-200, 2000. [PubMed: 11076041]
    McFadden D E, Pantzar J T.: Placental pathology of triploidy. Hum. Path. 27:1018-1020, 1996. [PubMed: 8892584]
    Digyny appears to be the most common cause of origin of triploidy.

    McFadden D E, Robinson W P.: Phenotype of triploid embryos. 43: 609-612 2006, [PMC free article: PMC2564556] [PubMed: 16236813]
    Robinson W P, McFadden D E, Stephenson M D.: The origin of abnormalities in recurrent aneuploidy/polyploidy. AJHG 69:1245-1254; and Online 0002-9297/2001/6906-00XX, 2001. [PMC free article: PMC1235536] [PubMed: 11675616]
    Robinson et al found that the etiology of trisomy is predominantly a result of meiotic errors related to increased maternal age.
    McFadden et al (2002) found that all of the 14 cases of diandric triploidy were the result of dispermy with no evidence to support a meiotic error as the origin of diandric triploids. They further suggest that virtually all triploidy is a consequence of an error in the ovum either a division error leading to digyny or an abnormality of the ovum that fails to block fertilization by more than one sperm.
    Nine cases were studied.
    69,XXX or XXY.
    Fetal and embryonic phenotypes were studied.
    Index Terms: Imprinting ... genomic
  • Meisner L F, Louie R R, Arya S, Gilbert E F: Triploidy with an extra sex chromosome (70,XXYY) and elevated alpha-fetoprotein levels. BD-OAS 23(No.1):333-339, 1987. [PubMed: 2437980]
    After counseling the pregnancy was terminated.
    70,XXYY.
  • Merlob P, Naor N, Shohat M: Phenotypic expression of the first liveborn 68,XX triploid newborn. J. Med. Genet. 28:886-887, 1991. [PMC free article: PMC1017171] [PubMed: 1757968]
    68,XX.
    Abnormalities included hypotelorism, type I microtia, fuzzy hair.
    A rare double aneuploidy liveborn patient]
    Index Terms: Double aneuploidy
  • Migeon B R, Sprenkle J A, Do T T: Stability of the ''two active X'' phenotype in triploid somatic cells. Cell 18:637-641, 1979. [PubMed: 229959]
  • Minelli E, Buchi E, Granata P, Meroni E, Righi R, Portentoso P, Giudici A, Ercoli A, Sartor M G, Rossi A, Fasola M, Campagna C, Casalone R: Cytogenetic findings in echographically defined blighted ovum abortions. Ann. Genet. 36:107-110, 1993. [PubMed: 8215215]
    52 spontaneous blighted ovum abortions were studied.
    Index Terms: Blighted ovum abortions
  • Miny P, Koppers B, Dworniczak B, Bogdanova N, Holzgreve W, Tercanli S, Basaran S, Rehder H, Exeler R, Horst J.: Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally. AJMG 57:102-106, 1995. [PubMed: 7645587]
    17 cases were studied.
    69,XXY(10); 69,XXX(7).
    There was a predominance of maternal origin of the extra haploid set mainly due to longer survival time for digynic triploidies. The concept of 2 distinct phenotypes in triploidy is supported.
  • Mittal T K, Vujanic G M, Morrissey B M, Jones A.: Triploidy: antenatal sonographic features with post-mortem correlation. Prenat. Diag. 18:1253-1262, 1998. [PubMed: 9885016]
    US scans on 20 fetuses were evaluated.
    A range of abnormalities were seen: oligohydramnios (60%), IUGR (55%), CNS abnormalities (45%), placental abnormalities (55%), obstetric complications (30%), facial dysmorphism, limb anormalities (syndactyly, talips equinovarus and thigh muscle hypertrophy), and anomalies of cardio-vascular, respiratory and genito-urinary system.
  • Muller U, Weber J L, Berry P, Kupke K G: Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. J. Med. Genet. 30:597-600, 1993. [PMC free article: PMC1016462] [PubMed: 8411035]
    Blood:46,XX (50 cells).,Skin fibroblasts:mos46,XX(4 cells)/69,XXX(46 cells).
    Index Terms: Polar body,Mixoploidy
  • Nicolaides K H, Snijders R J M, Gosden C M, Berry C, Campbell S: Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet 340:704-707, 1992. [PubMed: 1355807]
    Spencer K, Liao A W J, Skentou H, Cicero S, Nicolaides K H.: Screening for triploidy by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat. Diag. 20:495-499, 2000. [PubMed: 10861716]
    Thilaganathan B, Makrydimas G, Nicolaides K H: Rapid DNA quantification in the prenatal diagnosis of fetal triploidy. Brit. J. Obstet. Gyn. 100:92-94, 1993. [PubMed: 8427846]
    Spencer et al concluded that a large proportion of triploidy cases could be identified.
    2086 patients were studied.
    42 cases were found in a total of 301 abnormal karyotypes.
  • Niebuhr E: Triploidy in man. Cytogenetical and clinical aspects. Humangenetik 21:103-125, 1974. [PubMed: 4600479]
  • Niemann-Seyde S C, Rehder H, Zoll B: A case of full triploidy (69,XXX) of paternal origin with unusually long survival time. Clin. Genet. 43:79-82, 1993. [PubMed: 8448906]
    The patient had several dysmorphic features and died after 2 1/2 weeks.
  • Ohama K, Ueda K, Okamoto E, Takenaka M, Fujiwara A: Cytogenetic and clinicopathologic studies of partial moles. Obst. Gynecol. 68:259-262, 1986. [PubMed: 2426638]
    There were 47 triploid moles.
  • Ornoy A, Kohn G, Ben Zur Z, Weinstein E D, Cohen M M: Triploidy in human abortions. Teratology 18:315-320, 1978. [PubMed: 741384]
    Six 69,XXX and one 69,XXY cases were found.
  • Page B M, Robson E B, Cook P J L, Sanger R, Watt J L: Diplospermy II indicated as the origin of a liveborn human triploid (69,XXX). J. Med. Genet. 18:386-389, 1981. [PMC free article: PMC1048763] [PubMed: 6948962]
    69,XXX.
    Index Terms: Diplospermy
  • Pai G S, Grush O C, Shuman C: Hematological abnormalities in Triploidy. AJDC 136:367-369, 1982. [PubMed: 7072670]
  • Paladini D, Calabro R, Palmieri S, D''Andrea T: Prenatal diagnosis of congenital heart disease and fetal karyotyping. Obstet. Gynecol. 81:679-682, 1993. [PubMed: 8469453]
    Index Terms: Congenital heart disease
  • Palmer C G, Miles J H, Howard-Peebles P N, Magenis R E, Patil S R, Friedman J M: Fetal karyotype following ascertainment of fetal anomalies by ultrasound. Prenat. Diag. 7:551-555, 1987. [PubMed: 3317386]
    Hydrocephaly was suspected at 29 weeks.
    69,XXX.
    Polyhydramnios was suspected at 21 weeks.
    mos46,XX/69,XXY.
    Index Terms: Hydrocephalus,Polyhydramnios
  • Pecile V, Demori E, Benussi D G, Dolce S, Amoroso A. : Diagnosis of triploidy in metaphases from uncultured amniocytes. Prenat. Diag. 22:78-79, 2002. [PubMed: 11810658]
  • Pergament E, Confino E, Zhang J X, Roscetti L, Chen P X, Wellman D.: Recurrent triploidy of maternal origin. Prenat. Diag. 20:561-563, 2000. [PubMed: 10913954]
    Rosenbusch B.: Digynic triploidy: possible mechanisms. Prenat. Diag. 21:234, 2001. [PubMed: 11260614]
    69,XXY
    29 year old mother had 3 pregnancies with triploidy, one following IVF and ICSI.
  • Petit P, Moerman Ph, Fryns J P: Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations. Clin. Genet. 41:175-177, 1992. [PubMed: 1576753]
    Triploidy was found in several tissues of this malformed fetus. Autopsy revealed bilateral ovotestes.
    Index Terms: Ovotestis,Hermaphrodism ... true
  • Pettenati M J, Mirkin L D, Goldstein D J: Diploid-Triploid mosaicism: report of necropsy findings. AJMG 24:23-28, 1986. [PubMed: 3706409]
    Patient died after 2 days.
    mos46,XX/69,XXX.
  • Pezzolo A, Santi F, Pistoia V, De Biasio P.: Prenatal diagnosis of triploidy using fetal cells in the maternal circulation. Prenat. Diag. 17:389, 1997. [PubMed: 9160394]
    CVS=69,XXY
    An ultrasound scan showed IUGR, hydrocephalus, absence of kidneys, a normal placenta with anterior position and an empty fetal bladder.
    FISH with X-, Y-, 21-, and 18- specific DNA probes showed a triploid chromosome constitution.
    Index Terms: Fetal cells in maternal circulation
  • Phelan M C, Rogers R C, Michaelis R C, Moore C L, Blackburn W.: Prenatal diagnosis of mosaicism for triploidy and trisomy 13. Prenat. Diag. 21:457-460, 2001. [PubMed: 11438949]
    47,XY,13+[12 colonies]/69,XXY[4 colonies].,Cord blood=47,XY,+13+[80%]/69,XXY[20%].,Fibroblasts=47,XY,13+28%]/69,XXY[72%].
    Prenatal diagnosis was done because of abnormal ultrasound at 18 weeks. Infant delivered at 37 weeks but died 22 hours after birth..
    Two maternal contributions in the triploid cell line and the extra chromosome 13 was also maternal.
    Index Terms: Mosaicism for Triploidy and trisomy 13
  • Philipp T, Grillenberger K, Separovic E R, Philipp K, Kalousek D K.: Effects of triploidy on early human development. Prenat. Diag. 24:276-281, 2004. [PubMed: 15065101]
    18 triploid specimen were studied. 254 cases of missed abortion were examined between 1999 and 2003.
    13 were 69, XXY and 5 were 69,XXX.
    Placenta of 12 grossly abnormal embryos was diagnosed as partial hydatidiform moles on histological examination.
  • Pieters M H E C, Dumoulin J C M, Ignoul-Vanvuchelen R C M, Bras M, Evers J L H, Geraedts J P M: Triploidy after in vitro fertilization: cytogenetic analysis of human zygotes and embryos. J. Assis. Reprod. Genet. 9:68-76, 1992. [PubMed: 1617254]
    Index Terms: Ivf
  • Pircon R A, Towers C V, Porto M, Gocke S E, Garite T J: Maternal serum alpha-fetoprotein and fetal triploidy. Prenat. Diag. 9:701-707, 1989. [PubMed: 2480590]
    Index Terms: MSAFP-Maternal alhpa-fetoprotein
  • Pittard W B, Sorensen R U, Stallard R: Lymphocyte proliferation in a 31-week premature neonate with 69,XXX chromosomal constitution. Clin. Genet. 24:26-28, 1983. [PubMed: 6616943]
    Index Terms: Still born (premature)
  • Plachot M, Junca A M, Mandelbaum J, de Grouchy J, Salat-Baroux J, Cohen J: Chromosome investigations in early life. II. Human preimplantation embryos. Hum. Reprod. 2:29-35, 1987. [PubMed: 3571445]
  • Procter S E, Gray E S, Watt J L: Triploidy, partial mole and dispermy. An investigation of 12 cases. Clin. Genet. 26:46-51, 1984. [PubMed: 6467655]
  • Rochon L, Vekemans M J J: Triploidy arising from a first meiotic non-disjunction in a mother carrying a reciprocal translocation. J. Med. Genet. 27:724-726, 1990. [PMC free article: PMC1017270] [PubMed: 2277393]
    69,XXY,t(6;14)(p23;q24)mat.
    Pregnancy was terminated. Polymorphism of chromosome 14 enabled the authors to conclude the source of the extra genome.
  • Rosenbusch B, Schneider M, Sterzik K.: Triploidy caused by endoreduplication in a human zygote obtained after in-vitro fertilization. Hum. Reprod. 12:1059-1061, 1997. [PubMed: 9194666]
    Index Terms: Endoreduplication,IVF
  • Rowlands C G, Hwang W S.: Cytomegaly of pancreatic D cells in Triploidy. Pediat. Path. Lab. Med. 18:49-55, 1998. [PubMed: 9566282]
    Four cases, with gestational ages between 25 and 34 weeks, were studied.
    The authors observed marked enlargement of somatostatin-producing (D cells) in the pancreata of triploid fetuses.
  • Royston D, Bannigan J: "Autopsy findings in two cases of liveborn triploidy (69,XXX; 68,XXY)." Irish J. Med. Sci. 156:101-103, 1987. [PubMed: 3570706]
  • Schrocksnadel H, Guggenbichler P, Rhomberg K, Berger H: Komplette triploidie (69,XXX) mit einer uberlebensdauer von 7 monaten. Wien. Klin. Wochenschr. 94:309-315, 1982. [PubMed: 6289537]
    Patient V.L.,260880, survived till 7 months.
  • Schwaibold H, Dulisch I, Wittekind Ch, Voikulescu I, Kiefer G, Bohm N: Triploidy syndrome in a liveborn female. Teratology 42:309-315, 1990. [PubMed: 2274897]
  • Schwanitz G, Schuler H, Gembruch U, Zerres K.: Chromosomal findings in fetuses with ultrasonographically diagnosed ventriculomegaly. Ann. Genet. 36:150-153, 1993. [PubMed: 8117059]
    It is suggested that prenatally diagnosed hydrocephalus should be regarded as an indication for a chromosomal analysis.
    Five cases were found.
    69,XXY.
    One with hydrocephalus and spina bifida, and four with hydrocephalus and other abnormalities and/or growth retardation.
    Index Terms: Ventriculomegaly
  • Sherard J, Bean C, Bove B, DelDuca V, Esterly K L, Karcsh H J, Munshi G, Reamer J F, Suazo G, Wilmoth D, Dahlke B, Weiss C, Borgaonkar D S: Long survival in a 69,XXY triploid male. AJMG 25:307-312, 1986. [PubMed: 3777027]
    Patient (Nos. 1669, 1672, 1677, and 2194) died after 10 1/4 months making him the longest surviving triploid individual. The extra genome was maternal in origin.
    69,XXY, in several cells from blood, bone marrow, and skin fibroblasts.
    Index Terms: Survival in triploids
  • Sherlock J, Halder A, Tutschek B, Delhanty J, Rodeck C, Adinolfi M.: Prenatal detection of fetal aneuploidies using transcervical cell samples. J. Med. Genet. 34:302-305, 1997. [PMC free article: PMC1050916] [PubMed: 9138153]
    Case 3:
    69,XXY
    Transcervical cell samples were used and FISH, PCR analyses were done.
    Index Terms: Transcervical cell samples
  • Strobel S L, Brandt J T: Abnormal hematologic features in a live-born female infant with triploidy. Arch. Path. Lab. Med. 109:775-777, 1985. [PubMed: 3839384]
    Infant was still living at the time of this report and was 5 1/2 months old. Abnormal neutrophil projections are reported.
  • Szabo J, Gellen J, Szemere G: Mid-trimester chorionic biopsy. Case report. Brit. J. Obst. Gynecol. 93:512-513, 1986. [PubMed: 3518790]
  • Szulman A E, Philippe E, Boue J, Boue A: Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses. Hum. Path. 12:1016-1021, 1981. [PubMed: 7319489]
  • Tejada M I, Mendoza R, Corcostegui B, Benito J A: Chromosome studies in human unfertilized oocytes and uncleaved zygotes after treatment with gonadotropin-releasing hormone analogs. Fert. Ster. 56:874-880, 1991. [PubMed: 1936321]
    14/99 uncleaved zygotes were triploid.
    Index Terms: Uncleaved zygotes,Unfertilized oocytes
  • Theodoropoulos P, Lolis D, Papageorgiou C, Papaioannou S, Plachouras N, Makrydimas G.: Evaluation fo first-trimester screening by fetal nuchal translucency and maternal age. Prenat. Diag. 18:133-137, 1998. [PubMed: 9516014]
    Case No. 22:
    Maternal age was 27 years; fetal translucency thickness 4 mm, and crown-rump length 42mm.
    Index Terms: Nuchal translucency
  • Thomson R: Estimating the origins of human trisomies and triploids. Ann. Hum. Genet. 45:65-78, 1981. [PubMed: 7316478]
  • Topalovski M, Hankin R C, Michael C, Hunter S V, Edwards A M, Chen J C.: Ploidy analysis of products of conception by image and flow cytometry with cytogenetic correlation. Am. J. Clin. Pathol. 103:409-414, 1995. [PubMed: 7726136]
    19 hydropic placentas were studied by flow cytometry (FCM) and image cytometry (ICM).
    69,XXX.
    It is suggested that cultured tissue is not representative. One triploid and one tetraploid case was detected by ICM and FCM while the karyotype was diploid.
    Index Terms: Hydropic placentas, hydatidiform moles
  • Toth A, Szepesi J, Szigetvari I, Laszlo J: Direct chromosomal preparation for studying hydatidiform moles. Placenta 8:587-590, 1987. [PubMed: 3325969]
    Three cases were triploid.
    69,XXX.
    Index Terms: Hydatidiform mole
  • Tuerlings J H A M, Breed A S P M, Vosters R, Anders G J P A: Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX,+18/70,XXX,+18 mosaic. A remarkable diploid-triploid discrepancy after CVS. Prenat. Diag. 13:301-306, 1993. [PubMed: 8506231]
    CVS=mos47,XX,+18/70,XXX,+18.,Fetal skin=47,XX,+18.
  • Uchida I A, Freeman V C P: Triploidy and chromosomes. Am. J. Obst. Gynecol. 151:65-69, 1985. [PubMed: 3966508]
    Uchida I A, Freeman V C P, Chen P L: Detection and interpretation of two different cell lines in triploid abortions. Clin. Genet. 28:489-494, 1985. [PubMed: 4075560]
    Case 1:
    mos46,XX/69,XXX.
    Case 2:
    mos46,XX/68,XXX,-18.
    Case 3:
    mos68,XYY,-15/68,XYY.
    Case 4:
    mos46,XX/68,XYY.
  • Uchida I A, Lin C C: Identification of triploid genome by fluorescence microscopy. Science 176:304-305, 1972. [PubMed: 5019785]
  • Ulmer R, Rehder H, Trotnow S, Kniewald A, Kniewald T, Pfeiffer R A: Triploid embryo after In Vitro fertilization. Arch. Gynecol. 237:101-107, 1985. [PubMed: 4083916]
    Mother was 31 years old; spontaneous abortion 44 days after embryo transfer.
    69,XXX, mat.
  • van de Kaa C, Nelson K A M, Ramaekers F C S, Vooijs P G, Hopman A H N: Interphase cytogenetics in paraffin sections of routinely processed hydatididform moles and hydropic abortions. J. Path. 165:281-287, 1991. [PubMed: 1783950]
    Index Terms: Interphase cytogenetics
  • van de Laar I, Rabelink G, Hochstenbach R, Tuerlings J, Hoogeboom J, Giltay J.: Diploid/triploid mosaicism in dysmorphic patients. Clin. Genet. 62:376-382, 2002. [PubMed: 12431252]
    Case 1=46,XY[32]-newborn blood;mos69,XXY[22]/46,XY[10]-skin fibroblasts at 7 months.,Case 2=46,XY,[32]-blood at 7 months;mos69,XXY[33%]/46,XY-skin fibroblasts at 19 months. ,Case 3=46,XX-blood;mos68,XXX[45]/46,XX[5]-skin fibroblasts.
    Case 1 patient at 6 years of age has severely delayed development.,Case 2 patient at 6 years of age has severe psychomotor development problems and dysmorhpic features.,Case 3 has some dysmorphic asymmetry and other features.
  • van Lijnschoten G, Albrechts J, Vallinga M, Hopman A H N, Arends J W, Geraedts J P M.: Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis. Hum. Genet. 94:518-522, 1994. [PubMed: 7959687]
    Index Terms: FISH ... abortion
  • van Lingen R A, Zwart P, van Hemel J, den Hollander J C: "Triploidy in the newborn; clinical course and cytogenetic aspects." Ned Tijd. Geneeskd.(NTVG). 133:1134-1137, 1989. [PubMed: 2739798]
    69,XXX.
    The infants survived for 7 days and 6 1/2 hours respectively.
  • Vassilakos P, Riotton G, Kajii T: Hydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical considerations. Am. J. Obst. Gynecol. 127:167-170, 1977. [PubMed: 188340]
    69,XXY.
    Index Terms: Hydatidiform mole
  • Vogel W, Trautmann T, Horler H, Pentz S: Cytogenetic and biochemical investigations on fibroblast cultures and clones with one and two active X chromosomes of a 69,XXY triploidy. Hum. Genet. 64:246-248, 1983. [PubMed: 6309648]
    This case is to be published by Henrichs et al.
  • Wasserman S A, Bofinger M K, Saldana L R: Ultrasound and genetic features of a term triploid pregnancy. Am. J. Perinat. 8:398-401, 1991. [PubMed: 1814305]
  • Wax J R, Steinfeld J D, Ingardia C J.: Fetal triploidy: a unique cause of the stuck twin sign. Obstet. Gynecol. 92:714, 1998. [PubMed: 9764681]
    Twin B:69,XXX.
    Twin A was normal 46,XX and was delivered at 39 weeks. The triploid was diagnosed as an in utero fetal demise at 19 weeks.
    Index Terms: Twin (stuck)
  • Weaver D D, Gartler S M: Evidence for two active X chromosomes in a human triploid line. Humangenetik 28:39-42, 1975. [PubMed: 1171078]
  • Wertelecki W, Graham J M, Jr, Sergovich F R: The clinical syndrome of triploidy. Obst. Gynecol. 47:69-76, 1976. [PubMed: 1246396]
    Two cases were karyotyped at birth.
    69,XXX.
  • Williamson R A, Weiner C P, Patil S R, Benda J, Varner M W, Abu-Yousef M M: Abnormal pregnancy sonogram: selective indication for fetal karyotype. Obst. Gynecol. 69:15-20, 1987. [PubMed: 3540760]
    13 out of 41 fetuses had chromosome anomalies. Only seven survived.
  • Wong H S, Tang M H Y, Yan K W, Cheung L W K.: Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy. Prenat. Diag. 19:859-862, 1999. [PubMed: 10521846]
    69,XXX
    The diagnosis was based on two sonographic criteria: intracranial finding of a single ventricle with a mantle and no visible midline structures but fusion of the thalami and corpus striatum, and facial abnormalities, including hypotelorism and proboscis.
    Index Terms: Alobar holoprosencephaly
  • Wulfsberg E A, Wassel W C, Polo C A: Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia. Clin. Genet. 39:370-375, 1991. [PubMed: 1860253]
  • Yu C W, Chen H, Fowler M: Specific terminal DNA replication sequence of X chromosomes in different tissues of a live-born triploid infant. AJMG 14:501-511, 1983. [PubMed: 6683074]
  • Zahradka M, Zahradka W: Partial hydatidiform mole-phenotype of triploidy. Zent. Gynakol. 110:1315-1317, 1988. [PubMed: 3239300]
    Pregnancy was terminated in the 19th week because of fetal malformations detected by ultrasound.
  • Zaragoza M V, Surti U, Redline R W, Millie E, Chakravarti A, Hassold T J.: Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. AJHG 66:1807-1820, 2000. [PMC free article: PMC1378061] [PubMed: 10801385]
    91 cases of spontaneous abortions were examined.
    These authors found that paternally-derived cases predominate among "typical"spontaneous abortions, whereas maternally-derived cases are associated with either early embryonic demise or with relatively late demise involving a well-formed fetus. They also found that the majority of cases were diandric in origin because of dispermy.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106196
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