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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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  • Anneren G, Frodis E, Jorulb H: Trisomy 8 syndrome. The rib anomaly and some new features in two cases. Helv. Paediat. Acta 36:465-472, 1981. [PubMed: 7309535]
    Index Terms: Ribs ... anomalies
  • Atkins L, Holmes L B, Riccardi V M: Trisomy 8. J. Ped. 84:302-304, 1974. [PubMed: 4129791]
    Riccardi V M: Trisomy 8: An international study of 70 patients. BD-OAS XIII(No. 3C):171-184, 1977. [PubMed: 890109]
    The "Warkany Syndrome" is characterized by mental retardation, relatively specific facies, absent or dysplastic patellas, joint contractures, plantar/palmar furrows, distinctively abnormal toe posture, vertebral anomalies, narrow pelvis, ureteral-renal anomalies or other abnormalities. No association with advanced maternal age, birthweight or length was found.
    Index Terms: Warkany syndrome
  • Baidas S, Chen T-J, Kolev V, Wong L-J, Imholte J, Qin N, Meck J.: Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. AJMG 124A:383-387, 2004. [PubMed: 14735586]
    Bone marrow, unstimulated=47,XX,+8.,Blood,PHA-stimulated=47,XX,+8[14]/46,XX[6].,Skin fibroblasts=46,XX.
    The 32 yera-old patient had a history of recurrent aphthous ulcers since childhood and 4 year history of macrocytosis.
  • Beemer F A, van Doorne J M, Gorlin R J, Klep-de-Pater J M: Roentgencephalometric measurements in trisomy 8 mosaicism: report of three cases. J. Craniofac. Genet. Develop. Biol. 4:233-241, 1984. [PubMed: 6501561]
  • 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]
  • Camurri L, Caselli L, Manenti E: True mosaicism and pseudomosaicism in second trimester fetal karyotyping. A case of mosaic trisomy 8. Prenat. Diag. 8:168, 1988. [PubMed: 3362781]
    Camurri L, Chiesi A: A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally. Prenat. Diag. 11:59-62, 1991. [PubMed: 2027856]
    Hsu L Y F, Yu M T, Neu R L, Van Dyke D L, Benn P A, Bradshaw C L, Shaffer L G, Higgins R R, Khodr G S, Morton C M, Wang H, Brothman A R, Chadwick D, Disteche C M, Jenkins L S, Kalousek D K, Pantzar T J, Wyatt P.: Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat. Diag. 17:201-242, 1997. [PubMed: 9110367]
    Prenatal and after birth evaluation confirmed the mosaic status.
    Phenotypically the baby girl was within normal limits; birth weight was 3100g. and Apgar score was 10.
    Amniotic fluid:1/8 clones was trisomy 8.&Fetal blood:mos46,XX(997 cells)/47,XX,+8(3 cells).&Peripheral blood:mos46,XX(993 cells)/47,XX,+8(7 cells).
    Chromosomal Aneuploidy: 8+
  • Caspersson T, Lindsten J, Zech L, Buckton K E, Price W H: Four patients with trisomy 8 identified by the fluorescence and Giemsa banding technique. J. Med. Genet. 9:1-7, 1972. [PMC free article: PMC1469203] [PubMed: 4112567]
    Trisomy 8 has been well delineated in this report.
  • Cassidy S B, McGee B J, van Eys J, Nance W E, Engel E: Trisomy 8 syndrome. Pediatrics 56:826-831, 1975. [PubMed: 1196743]
    46,XY/47,XY,+8.&"It is concluded that the trisomy 8 ""condition is benign in comparison with other autosomal trisomies and that the syndrome involves mild psychomotor retardation, bone and joint anomalies and other visceral defects."""
    Index Terms: Joints ... anomalies,Bone anomalies,Visceral defects
  • Chandley A C, Hargreave T B, Fletcher J M, Soos M, Axworthy D, Price W H: Trisomy 8. Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility. Hum. Genet. 55:31-38, 1980. [PubMed: 7450754]
    Patient J. (MRC Registry No. A/102/78) was 27 years old. Studies on blood show pure trisomy 8, on skin fibroblasts a mosaic 46,XY/47,XY,+8, and at meiosis, the extra 8 chromosome is missing from the germ line.
    Index Terms: Sterility ... male
  • Dallapiccola B, Gallenga P E, Pinca A, Capra L: A case of trisomy 8. Acta Genet. Med. Gemellol. 23:253-258, 1974.
    Case G.M. in this report.
    47,XY,+8.
  • Damilano C, Bossi B, Spada M: A case of trisomy 8 mosaicism. Ital. J. Ped. 12:439-441, 1986.
    Patient G. Gabriele, 151283.
    mos46,XY/47,XY,+8.
  • de Grouchy J, Jusso F, Beguin S, Turleau C, Jalbert P, Laurent C: Blood clotting factor VII deficiency in three patients with trisomy 8. Ann. Genet. 17:105-108, 1974. [PubMed: 4547936]
    Case 2 in this report.
    47,XX,+8.
    Cases 1 and 3 in this report.
    46,XY/47,XY,+8.
    Index Terms: Coagulation factors VII ... deficiency
  • de Michelena M I: Erratum-Letter to the Editor. AJMG 46:605, 1993.
    de Michelena M I, Sanchez R, Munoz P, Cabello E, Rojas P, de Olazaval E: Trisomy 9: an additional case with unique manifestations. AJMG 43:697-700, 1992. [PubMed: 1621760]
    Schinzel A: Trisomy 8 and trisomy 9 are distinctly different clinical entities. AJMG 46:603-604, 1993. [PubMed: 8322828]
    Patient J.C.L.
    mos46,XY(51 cells)/47,XY,+8(9 cells)-blood.
  • Finley Austin M J, Neale M C, Corey L A, Nance W E, Schieken R M, Brown J A: Common fragile site expression in lymphocytes from an individual mosaic for trisomy 8. AJMG 45:570-571, 1993. [PubMed: 8456825]
    mos46,XY(44%)/47,XY,+8(56%).
    The fragile sites examined were 3p14.2, 16q23.2, Xp22.31, 6q26 and 2q32.12. No differences in the expression of these fragile sites was observed in the trisomic and normal metaphases.
    Index Terms: Fragile site
  • Garozzo R, Pane A, Mattina T, Milone G, Conti L, Sorge G: Trisomia 8 a mosaico. Descrizione di un caso. Riv. Ital. Ped. 12:153-156, 1986.
    Patient was 7 years old.
    mos46,XY/47,XY,+8.
  • Gotze A, Krebs, P, Stumm M, Wieacker P, Allhoff E P.: Trisomy 8 mosaicism in a patient with tetraamelia. AJMG 86:497-498, 1999. [PubMed: 10508995]
    mos47,XY,+8[16]/46,XY[34].
    The 26 year-old patient also has epilepsy and genitourinary anomalies such as aplasia of the right kidney, an undescended testis right, micropenis, and hypoplasia of the prostrate.
    Index Terms: Tetraamelia
  • Guichet A, Briault S, Toutain A, Paillet C, Descamps P, Pierre F, Body G, Moraine Cl.: Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks. Prenat. Diag. 15:769-772, 1995. [PubMed: 7479598]
    mos46,XY(50%)/47,XY,+8(50%)(CVS-culture);46,XY(CVS-direct).
    Ultrasound anomalies noted since 9 weeks were hygroma colli, dilatation of the renal pelvis and the fetus at 19 weeks had hypertelorism, brachycephaly, nasal hypoplasia, and abnormal ears.
    Confirmation at the time autopsy also showed mosaicism in various tissues.
    Index Terms: Hygroma colli
  • Habecker-Green J, Naeem R, Goh W, Pflueger S, Murray M, Cohn G.: Reproduction in a patient with trisomy 8 mosaicism: case report and literature review. AJMG 75:382-385, 1998. [PubMed: 9482643]
    mos47,XX,+8[88%]/46,XX in lymphocyte culture.
    The patient was G5,P1131; her two pregnancies had normal 46 chromosomes, one girl was nondysmorphic and is doing well.
    Index Terms: Trisomy 8, reproduction in a mosaic female
  • Hanna J S, Neu R L, Barton J R.: Difficulties in prenatal detection of mosaic trisomy 8. Prenat. Diag. 15:1196-1197, 1995. [PubMed: 8750306]
    Two cases are presented.
    Case 1: mos46,XY(45 colonies)47,XY,+8(2 colonies).,Case 2:mos46,XY/47,XY,+8 (1 cell in 15 colonies); confirmed later.
    Cardiac defect in case 1 and agenesis of the corpus callosum in acse 2.
    Index Terms: Agenesis of corpus callosum
  • 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]
    James R S, Jacobs P A.: Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Hum. Genet. 97:283-286, 1996. [PubMed: 8786064]
    4 cases of SA had maternal origin of the extra 8 and 4 live born cases had post-zygotic mitotic gain of the additional chromosome.
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
  • Hecht F: Personal communication, 1978.
    mos46,XY/47,XY,+8.
  • Hoovers J M N, Oorthuys J W E, de Visser M: Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities. Clin. Genet. 35:446-449, 1989. [PubMed: 2736792]
    Patient J.M. was 33 years old.
    mos47,XY,+8(71%)/48,XXYY(29%)(blood).&mos47,XY,+8(68%)/48,XXYY(32%)(skin).
  • Hulley B J, Hummel M, Cook L L, Boyd B K, Wenger S L.: Trisomy 8 mosaicism: selective growth advantage of normal cells vs. growth disadvantage of trisomy 8 cells. AJMG DOI=10.1002/ajmg.10651;116A:144-146, 2003. [PubMed: 12494432]
    Amniocytes=mos47,XY,+8[8]/46,XY[17].,Several tissues were subsequently shown to have some degree of mosaicism except transformed blood.
    The infant, with several dysmorphic features, expired at 8 weeks of age due to pulmonary hypertension.
  • Hustinx T W J, ter Haar B G A, Rutten F J, Scheres J M J C, Janssen A H: Trisomy 8 mosaicism. Mschr. Kindergeneesk. 43:138-150, 1975.
    Case W.W. (610711) in this report.
    Characteristic features are deep furrows in palms and soles, extra or dysmorphic vertebrae, patella dysplasia, and peculiar dermatoglyphics.,Data on 21 previously reported cases are reviewed.
    Index Terms: Patella ... dysplasia,Vertebra ... abnormalities
  • Jehan P, La Maree B, Jezequel C: Trisomie 8. A developement intellectuel normal. Arch. Fr. Ped. 36:699-702, 1979. [PubMed: 533350]
    Patient Fabrice Sa., 000477 in this report. Termann Merrill test evaluation. Development quotient was 97.
    47,XY,+8.
  • Kadotani T, Watanabe Y, Takeuchi S, Horikoshi S: A case of trisomy 8 mosaicism. Proc. Jpn. Acad. (Ser. B) 59:74-77, 1983.
  • Kakati S, Nihill M, Sinha A K: An attempt to establish trisomy 8 syndrome. Humangenetik 19:293-300, 1973. [PubMed: 4763936]
    47,XX,+8.
  • Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, Albrecht B, Passarge E, Anneren G, Blennow E, Clausen N, Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemann J M, Hertz J M, Houge G, Kuklik M, Macek M, Lacombe D, Miller K, Moncla A, Lopez Pajares I, Patsalis P C, Prieur M, Vekemans M, von Beust G, Brondum-Nielsen K, Petersen M B.: Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Europ. J. Hum. Genet. 6:432-438, 1998. [PubMed: 9801867]
    26 probands were studied: live births=20, spontaneous abortions=4, and prenatal diagnosis=2.
    mos47,XY,+8/46,XY(13). mos47,XX,+8/46,XX(6). 47,XY,+8(6).47,XX,+8(1).
    20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication. Two cases of spontaneous abortions were due to maternal meiotic nondisjunction.
  • Kim H J: Personal communication, 1978.
  • Klein J, Graham J M, Jr, Platt L D, Schreck R: Trisomy 8 mosaicism in chorionic villus sampling: case report and counselling issues. Prenat. Diag. 14:451-454, 1994. [PubMed: 7937581]
    CVS (direct)=46,XY - 8 cells.&CVS (Culture)=mos46,XY(8 cells)/47,XY,+8(35 cells).&Amniotic fluid (20 colonies)=46,XY.&Placental biopsy=mos46,XY (18 cells)/47,XY,+8 (12 cells).&Cord blood=mos46,XY (6 cells)/47,XY,+8 (2 cells).&Blood at 2 months of age=mos46,XY(96 cells)/47,XY,+8(4 cells).&Blood at 7 months of age=mos46,XY(99 cells)/47,XY,+8(1 cell).&Fibroblasts at 7 months of age=46,XY - 100 cells.
    Placenta was normal. Child is normal developmentally when last examined at 30 months.
  • Lessick M, Israel J, Szego K, Wong P: Leiomyosarcoma in a patient with trisomy 8 mosaicism. J. Med. Genet. 27:643-644, 1990. [PMC free article: PMC1017246] [PubMed: 2246776]
    Index Terms: Leiomyosarcoma
  • Mark H F L, Ahearn J, Lathrop J C.: Consitutional trisomy 8 mosaicism and gestational trophoblastic disease. Cancer Genet. Cytogenet. 80:150-154, 1995. [PubMed: 7736433]
    Index Terms: Trophoblastic disease
  • Mark H F L, Bier J A B.: Disappearing trisomy 8 mosaicism. Ann. Clin. Lab. Sc. 27:293-298, 1997. [PubMed: 9210975]
    Mark H F L.: Constitutional trisomy 8 mosaicism and cancer. Cancer Genet. Cytogenet. 86:87-88, 1996. [PubMed: 8616798]
    Patient ME:
    mos46,XY/47,XY,+8[1/20] in 1991.,No more trisomy cells in 100 additional cells examined. ,FISH with probes pJM12 and D8Z1 yielded low positive findings [0.6%, 0.2%] in blood and [0.4%] in buccal smear preparations.
    The patient was originally referred for fragile-X analysis.,An interesting discussion about mosaicism!
    Index Terms: Disappearing mosaicism
  • Meisel-Stosiek M, Pfeiffer R A, Tietze H U: Tissue specific mosaicism in trisomy 8-syndrome. Klin. Pad. 195:365-3668, 1983. [PubMed: 6632718]
    Five-year-old patient with long, narrow face, broad based nose, eversion of lower lip, microgeny, dysplastic years, deep palmer and plantar furrows, scoliosis, and only mild retardation.
    TP 751019(Erlangen).
    mos46,XY/47,XY,+8(fibroblasts); 46,XY(lymphocytes).
    Index Terms: Face ... long narrow,Lips ... everted lower,Scoliosis
  • Mercier S, Bresson J L.: Analysis of chromosomal equipment in spermatozoa of a 46,XY/47,XY/+8 male by means of multicolour fluorescent in situ hybridization: confirmation of a mosaicism and evaluation of risk for offspring. Hum. Genet. 99:42-46, 1997. [PubMed: 9003492]
    mos47,XX,+8(8%)/46,XX-lymphocytes;,mos ish(pJM.128,L1.84x3)(1.59%)/(x2).
    The 30 year old man ascertained in studies of spontaneous abortions.
  • Miller K, Arslan-Kirchner M, Schulze B, Dudel-Neujahr A, Morlot M, Burck U, Gerresheim F.: Mosaicism in trisomy 8: phenotypic differences according to tissular repartition of normal and trisomic clones. Ann. Genet. 40:181-184, 1997. [PubMed: 9401109]
    Case 1:
    mos47,XY,+8/46,XY[4/50] in lymphocyte,fra(16)(q22)
    The patient was ascertained at the age of 2 years because of retardation. Examination showed agenesis of corpus callosum and a severe expansion of the lateral ventricles.
    Case 2:
    mos47,XY,+8/46,XY,[1/53] in fibroblasts.,47,XY,+8 in lymphocytes[50].
    The newborn had MCA and psychometrically retarded at the age of 3 years with microcephaly.
    Case 3:
    CVS in culture=mos47,XY,+8/46,XY[16/26 clones].,CVS direct=46,XY [18]. ,Amniotic fluid=46,XY[96 metaphases in 48 clones].,Peripheral blood=mos47,XY,+8/46,XY[5% in 124 metaphases].,Amniotic membrane culture 1=46,XY[101 metaphases].,Amniotic membrane culture 2=,mos47,XY,+8/46,XY[72/90 metaphases].,Placenta samples 1 & 2=46,XY[45 & 58 metaphases].,Placenta sample 3=47,XY,+8[17 metaphases].,Blood at 5 mo=mos47,XY,+8/46,XY[2/279 metaphases].
    Mother was 35 years old and had prenatal workup. At the age of 2 1/2 years the boy''s development is normal.
    Index Terms: Agenesis of corpus callosum
  • 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
  • Nakagome Y, Warkany J, Rubinstein J H: A follow-up. J. Ped. 72:695-697, 1968. [PubMed: 5646370]
    Soukup S W: Personal communication, 1976.
    Warkany J, Rubinstein J H, Soukup S W, Curless M C: Mental retardation, absence of patellae, other malformations with chromosomal mosaicism. J. Ped. 61:803-312, 1962. [PubMed: 13998931]
    First report of a trisomy 8q, hence, it is now sometimes referred as Warkany syndrome.
    Chromosomal Aneuploidy: 8q+
    Index Terms: Warkany syndrome
  • Nakajima Y, Watarida S, Onoe M, Sugita T, Nojima T, Mori A.: Surgical repair of a ventricular septal defect in a patient with trisomy 8 syndrome. J. Cardiovasc. Surg. 36:171-173, 1995. [PubMed: 7790338]
    The patient was 3 1/2 years old with MCA and MR. Surgical repair of the VSD included a patch closure.
    Index Terms: Ventricular septal defect
  • Nucaro A L, Cao A, Faedda A, Crisponi G.: Trisomy 8 mosaicism in a patient born to a mother with 47,XXX. AJMG DOI=10.1002/ajmg.a.20086; 119A:85-86, 2003. [PubMed: 12707966]
    mos47,XX,+8[80%]/46,XX[20%].,Mother=47,XXX.
    The patient had round face, hypertelorism, large ears, micrognathia, clinodactyly, camptodactyly, deep palmer and plantar creases, cryptorchidism, hydronephrosis, cardiovascular anomalies, agenesis of the corpus callosum, and MR.
  • Pai G S, Thomas G H, Leonard C O, Ward J C, Valle D L, Pyeritz R E: Syndromes due to chromosomal abnormalities: Partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8. Johns Hopk. Med. J. 145:162-169, 1979. [PubMed: 491337]
    A 19 year old was karyotyped because of differential diagnosis of Marfan syndrome.
    47,XY,+8.
    Index Terms: Marfan syndrome
  • Palmer C G, Provisor A J, Weaver D D, Hodes M E, Heerema N A: Juvenile chronic granulocytic leukemia in a patient with trisomy 8, neurofibromatosis, and prolonged Epstein-Barr virus infection. J. Ped. 102:888-892, 1983. [PubMed: 6304274]
    mos46,XY/47,XY,+8.
    MIM#: 162200
    Index Terms: Leukemia ... chronic granulocytic,Neurofibromatosis
  • Pellestor F, Girardet A, Coignet L, Andreo B, Charlieu J P.: Assessment of aneuploidy for chromosomes 8, 9, 13, 16, and 21 in human sperm by using primed in situ labeling technique. AJHG 58:797-802, 1996. [PMC free article: PMC1914680] [PubMed: 8644744]
    The estimated rate for disomy is 0.31%.
    Index Terms: PRINS
  • Philipp T, Kalousek D K.: Generalized abnormal embryonic development in missed abortion: embryoscopic and cytogenetic findings. AJMG 111:43-47; DOI=10.1002/ajmg.10476, 2002. [PubMed: 12124732]
    47,XY,+8
  • Procter S E, Watt J L, Lloyd D J, Duffty P: Problems of detecting mosaicism in skin. A case of trisomy 8 mosaicism illustrating the advantages of in situ tissue culture. Clin. Genet. 25:273-277, 1984. [PubMed: 6705260]
  • Rethore M O, Aurias A, Couturier J, Dutrillaux B, Prieur M, Lejeune J: Chromosome 8: complete trisomy and partial trisomies. Ann. Genet. 20:5-11, 1977. [PubMed: 302674]
    Based on data collected from 12 cases, three syndromes are defined: trisomy 8, trisomy 8p and 8q proximal, and trisomy 8q terminal. Clinical features common to all three syndromes include vertebral anomalies, depression of the mesosternum, and bulging of the forehead suggesting assignment of loci affecting osseous growth on chromosome 8. Trisomy 8p causes severe mental deficiency, thick nose, large mouth and microcephaly.
    Index Terms: Forehead ... bulging,Microcephaly,Mouth ... large,Sternum ... mesosternum depression,Vertebra ... abnormalities
  • Reyes P G, Hsu L Y F, Strauss L, Rose J, Hirschhorn K: Trisomy 8 mosaicism syndrome. Report of monozygotic twins. Clin. Genet. 14:90-97, 1978. [PubMed: 567548]
    The liveborn twin had mosaic trisomy 8 cells in blood cells, only trisomic cells in skin fibroblast cultures and only normal cells in bone marrow. The first twin, a stillborn, had clinical features suggestive of trisomy 8 syndrome but was not karyotyped.
  • Risch N, Stein Z, Kline J, Warburton D: The relationship between maternal age and chromosome size in autosomal trisomy. AJHG 39:68-78, 1986. [PMC free article: PMC1684020] [PubMed: 3752082]
    23 of these were found.
  • Robinson W P, Barrett I J, Bernard L, Telenius A, Bernasconi F, Wilson R D, Best R G, Howard-Peebles P N, Langlois S, Kalousek D K.: Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. AJHG 60:917-927, 1997. [PMC free article: PMC1712477] [PubMed: 9106539]
    Three cases are reported: 96.64, 94.79, and 89.20.
    Index Terms: CPM
  • Robinson W P, Bernasconi F, Lau A, McFadden D E.: Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. AJMG 84:34-42, 1999. [PubMed: 10213044]
    14/89 cases:
    47,XX,+8 and 47,XY,+8.
    Index Terms: CPM,Imprinting
  • Robinson W P, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder E A, Schinzel A A.: Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection. AJHG 56:444-451, 1995. [PMC free article: PMC1801123] [PubMed: 7847381]
    5 cases were studied: 4/5 were consistent with a somatic gain.
    Index Terms: Mosaicism
  • Rodewald A, Zankl H, Wischerath, Borkowsky-Fehr B: Dermatoglyphic patterns in trisomy 8 syndrome. Clin. Genet. 12:28-38, 1977. [PubMed: 891006]
    Data based on 38 cases. Characteristics were: a low TFRC(x=96.06), high plantar(100%) pattern intensity, a distally placed apial triradius in an interdigital area(91.7%), thenar(68.2%) and hypothenar(50.0%) patterns, simian crease(47.1%), bilateral arches on the great toes(88.9%) and hallucal-whorl(72.2%). A distinctive feature was the presence of zygodactylous triradii Z, Z, Z(100%) on the soles of the feet, and deep skin furrows on the palms and soles(68.2%).
  • Rogers R C, Marsh T D, Reddy P, Lett D: Mosaic trisomy 8 associated with jejunal duplication. Clin. Genet. 40:254-255, 1991. [PubMed: 1773546]
    Patient M.F.
    Blood:46,XY(12)/47,XY,+8(3).&Fibroblasts:46,XY(44%)/47,XY,+8(56%).
    Patient was a newborn.
    Index Terms: Jejunal duplication
  • Saks E, Mccoy M C, Damron J, Kelly T E.: Confined placental mosaicism for trisomy 8 and intra-uterine growth retardation. Prenat. Diag. 18:1202-1204, 1998. [PubMed: 9854734]
    CVS=mos47,XY,+8/46,XY in three cultures.,Blood (newborn)=46,XY[100].,Fibroblasts=46,XY
    Postnatally, the infant, at 3 months of age, experienced a period of catch-up growth and exhibited no dysmorphic features.
    FISH on fibroblasts preparations also showed presence of two chromosome 8 signals. PCR showed biparental inheritance for disomy 8.
    Index Terms: CPM-IUGR
  • Schneider M, Klein-Vogler U, Tomiuk J, Schliephacke M, Leipoldt M, Enders H: Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat. Diag. 14:651-652, 1994. [PubMed: 7971770]
  • Schubert R, Raff R, Schwanitz G.: Molecular-cytogenetic investigations of ten term placentae in cases of prenatally diagnosed mosaicism. Prenat. Diag. 16:907-913, 1996. [PubMed: 8938059]
    Case No. 2:
    Direct CVS, cultured amniotic membrane, and placenta showed mos46,XY/47,XY,+8. All other preparations showed normal chromosomes.
    Case No. AF-3:
    mos46,XY(91%)/47,XY,+8(9%).
    All other preparations showed normal karyotypes.
    Index Terms: CPM
  • Secker-Walker L M, Fitchett M.: Commentary. Constitutional and acquired trisomy 8. Leuk. Res. 19: 737-740, 1995. [PubMed: 7500651]
    Zollino M, Genuardi M, Bajer J, Tornesello A, Mastrangelo S, Zampino G, Mastrangelo R, Neri G.: Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature. Leuk. Res. 19: 733-736, 1995. [PubMed: 7500650]
    Patient was 18 years old with MCA/MR and was worked up for pancytopenia.
    Index Terms: Myelodysplasia
  • Seghezzi L, Maserati E, Minelli A, Dellavecchia C, Addis P, Locatelli F, Angioni A, Balloni P, Miano C, Cavalli P, Danesino C, Pasquali F.: Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chromos. Cancer 17:94-101, 1996. [PubMed: 8913726]
    The diagnosis were refractory anemia, acute lymphoblastic leukemia, and idiopathic myelofibrosis on the three patients: P.A., E.M., and V.R .
    Index Terms: Carcinogenesis
  • Sirchia S M, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi M G, Simoni G.: Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism. Prenat. Diag. 18:201-206, 1998. [PubMed: 9556035]
    Case No. 1:
    CVS-Dir. (cytotrophoblasts)=mos47,XX,+8[14]/46,XX[24].,Amniotic fluid=46,XX[26].
    Markers used were:D8S85, D8S88, D8S264, and D8S552.
    Case No. 3:
    CVS-Dir. (cytotrophoblasts)=mos47,XX,+8[2]/46,XX[17].,Amniotic fluid=46,XX[34].
    Markers used were:D8S85, D8S88, D8S264, and D8S552.
    Case No. 6:
    CVS-Dir. (cytotrophoblasts)=mos47,XX,+8[6]/46,XX[20].,Long-term culture mesenchyme=mos47,XX,+8[4]/46,XX[11].,Fetal tissues=46,XX[42].
    Markers used were:D8S85, D8S88, D8S264, and D8S552.
    Index Terms: CPM,UPD
  • Theilgaard A, Lundsteen C, Parving H H, Philip J: Trisomy 8 syndrome - A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution. Clin. Genet. 12:227-232, 1977. [PubMed: 912939]
    The 27 year old had a short head, a short broad-bridged nose, a protruding upper lip, pterygium coli, moderate kypho-scoliosis, camptodactyly of all fingers, deep furrowing on the soles, spina bifida of L1 and fusion of L5 and S1.
    Index Terms: Camptodactyly,Head ... small deformities,Kypho-scoliosis,Lips ... protruding upper,Pterygium colli,Spina bifida
  • Toyofuku T, Mochizuki I, Kusama S: Mediastinal germ cell tumor in trisomy 8. Europ. J. Resp. Dis. 70:245-249, 1987. [PubMed: 3034641]
    Patient was 12 years old.
    47,XY,+8.
  • Vantrappen G, Rommel N, Cremers Cor W R J, Fryns J-P, Devriendt K.: Mosaic trisomy 8 as a cause of velopharyngeal insufficiency. AJMG 10.1002/ajmg.10270; 108:337-338, 2002. [PubMed: 11920842]
    Patient 1=mos47,XX,+8[8]/46,XX[3]-blood.,Patient 2=mos47,XY,+8[11]/46,XY[7].
    Patient 1 was referred for delayed speech and language development. A pharyngoplasty (i.e., pharyngeal flap surgery combined with pushback incision according to Wardill) done at 8 years of age resulted in a makred reduction of hypernasal speech and thus better intelligibility. The patient several additional physical anomalies.,Patient 2 was seen at 2 weeks age for facial dysmorphism. A pharyngoplasty performed at the age of 5 years demonstrated, after 12 months, a significant improvement in intellegibility with reduced hypernasality.
    Index Terms: Velopharyngeal insufficiency
  • Walter K N, Greenhalgh K L, Newbury-Ecob R A, Kohlhase J.: Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. AJMG DOI=10.1002/ajmg.a.31136; 140A:649-651, 2006. [PubMed: 16470706]
    mos 47,XX,+8[8]/46,XX[12].
    A 14 year old patient was initially referred for perioral and perianal. ulcers. She was found to have triphalangeal thumbs, arachnodactyly and other anomalies.
    Index Terms: Townes-Brocks syndrome,SALL1
  • Webb A L, Wolstenholme J, Evans J, MacPhail S, Goodship J. : Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells. Prenat. Diag. 18:737-741, 1998. [PubMed: 9706657]
    Placental biopsy, direct=46,XY.,Fetal urine culture=mos47,XY,+8[3]/46,XY[60].,Placental biopsy, culture=47,XY,+8[50cells].,Skin fibroblasts, cultured=mos47,XY,+8[4]/46,XY[26].,Muscle cells, cultured=mos47,XY[4]/46,XY[46].,Blood=46,XY[100}.,Renal cells, cultured=ish(D8Z1x2[84]x3[10]).,Cytotrophoblasts and extra-embryonic cells also showed varied mosaic trisomy 8 cell distribution.
    Routine ultrasound at 18 weeks'' gestation showed distended bladder and absence of amniotic fluid.
    DNA microsatellite analyses suggested post-fertilization non-dysjunction event.
    Index Terms: Prenatal detection of mosaic 8+
  • Ying K L, Oizumi J, Curry J R: Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. J. Med. Genet. 27:258-260, 1990. [PMC free article: PMC1017030] [PubMed: 2325107]
    MIM#: 268400
    Index Terms: Rothmund-Thomson syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106503
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