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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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  • Bergoffen J A, Punnett H, Campbell T J, Ross A J III, Ruchelli E, Zackai E H: Diaphragmatic hernia in tetrasomy 12p mosaicism. J. Pediat. 122:603-606, 1993. [PubMed: 8463911]
    Case 1:
    mos46,XY/47,XY,+i(12p).
    Case 2:
    mos46,XY/47,XY,+i(12p).
    Case 3:
    mos46,XX/47,XX,+i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Diaphragmatic hernia
    No band
  • Bernert J, Bartels I, Gatz G, Hansmann I, Heyat M, Niedmann P D, Rehder H, Waldenmaier C, Zoll B: Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS. AJMG 42:747-750, 1992. [PubMed: 1632452]
    Aberration: Isochromosome
    No band
  • Bielanska M M, Khalifa M M, Duncan A M V.: Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. AJMG 65:104-108, 1996. [PubMed: 8911599]
    Struthers J L, Cuthbert C D, Khalifa M M.: Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases. AJMG 84:111-115, 1999. [PubMed: 10323734]
    Patient K.M. was 5 years old.
    mos47,XY,+i(12p)/46,XY
    Data on 67 cases are reviewed in the 1996 paper. The 1999 review showed 6 cases with maternal origin of the extra chromosome and 1 with paternal origin. Premeiotic mitotic error probably is the likely mechanism.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
    No band
  • Blancato J K, Hunt M, George J, Katz J, Meck J M: Prenatal diagnosis of tetrasomy 12p by in situ hybridization: varying levels of mosaicism in different fetal tissues. Prenat. Diag. 12:979-983, 1992. [PubMed: 1287645]
    mos46,XY(20%)/47,XY,+i(12p)(80%)-Amniotic fluid.&mos46,XY(50%)/47,XY,+i(12p)(50%)-chorion.&mos46,XY(70%)/47,XY,+i(12p)-placenta.&mos46,XY(20%)/47,XY,+i(12p)-blood.&47,XY,+i(12p)(100%)-skin.
    Diaphragmatic hernia and dextrolateral heart was seen seen prenatally on sonography.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Blennow E, Brondum-Nielsen K, Telenius H, Carter N P, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjold M.: Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization. AJMG 55:85-94, 1995. [PubMed: 7702104]
    Case No. 7:
    47,XX,+i(12p)de novo.
    MCA including diaphragmatic hernia and there was early neonatal death.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Boyle A H W, Kulkarni R, Smoleniec J S, Davies T, McDermott A: Prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling--its diagnostic problems. Prenat. Diag. 13:1160-1161, 1993. [PubMed: 8177837]
    mos46,XY(28)/47,XY,+i(12p)(2).
    Aberration: Isochromosome
    No band
  • Bresson J L, Arbez-Gindre F, Peltie J, Gouget A: Pallister Killian-mosaic tetrasomy 12p syndrome. Another prenatally diagnosed case. Prenat. Diag. 11:271-275, 1991. [PubMed: 1896413]
    Mrs. B.
    mos46,XY/47,XY,+i(12p).
    Ultrasound at 21 and 24 weeks revealed slight polyhydramnios with a left postero-lateral diaphragmatic defect and normal fetal growth.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Polyhydramnios
    No band
  • Butler M G, Dev V G.: Pallister-Killian syndrome detected by fluorescent in situ hybridization. AJMG 57:498-500, 1995. [PMC free article: PMC5011435] [PubMed: 7677161]
    Patient B.R.:
    mos46,XX/47,XX,+i(12p).
    The patient was followed till 12 months of age.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Charpenel V, Ion A, Telvi L.: De novo 46,XY/47,XY,+r(12) karyotype in a male with dysmorphia and psychomotor retardation. AJHG 67 (Suppl. 2):156, 2000.
    mos46,XY/47,XY,+r(12).
    The child presented with psychomotor retardation and dysmorphic face.
    Aberration: Ring chromosome
    No band
  • Chiesa J, Hoffet M, Rousseau O, Bourgeois J M, Sarda P, Mares P, Bureau J P.: Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization. Clin. Genet. 54:294-302, 1998. [PubMed: 9831340]
    Fetal blood=mos47,XX,i(12p)[4]/46,XX[25].,Amniotic fluid=mos47,XX,+i(12p)[9]/47,XX,+12p[1]/46,XX[5].,Cutaneous fibroblasts=mos47,XX,+i(12p)[20]/46,XX[6].
    The mother was 39 years old, and echography at 13 weeks showed no abnormalities. At 23 weeks, it showed hydramnios, short humerous, and other anomalies.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
  • Crolla J A, Dennis N R, Jacobs P A: A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J. Med. Genet. 29:699-703, 1992. [PMC free article: PMC1016126] [PubMed: 1433228]
    Case 3.
    mos46,XX/47,XX,+mar(12)de novo.
    Attempt has been made to correlate the physical findings with the chromosomal abnormality.
    No band
  • Daniel A, Malafiej P.: A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. AJMG 117A:212-222, 2003. [PubMed: 12599184]
    Case 1:
    47,XX,+r(12)de novo[58%]/46,XX.
    Patient was 7 years old, non-dysmorphic with moderate developmental delay.
    Aberration: Ring chromosome
  • Donnenfeld A E, Campbell T J, Byers J, Librizzi R J, Weiner S: Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia. Am. J. Obstet. Gynecol. 169:1017-1021, 1993. [PubMed: 8238112]
    Fetus Nos. 8 and 12.
    47,+i(12p)-amniotic fluid and skin/46-blood.
    Hydramnios was detected, one died within 4 hours.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Diaphragmatic hernia,Pallister-Killian syndrome,Hydramnios
    No band
  • Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A.: Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. Europ. J. Hum. Genet. 6:140-144, 1998. [PubMed: 9781058]
    Cases 1-3 with Pallister-Killian syndrome:
    mos46,XX or XY/47,XX or XY,+i(12p)de novo.
    The patients are 4, 5 and 5 1/2 years old respectively.
    The extra chromosomes were of maternal origin.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
  • Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G.: Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature. Ann. Genet. 42:75-80, 1999. [PubMed: 10434120]
    Three cases of i(12p)
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
  • Ford J H: Translocations of chromosome 12. II. A comparison of the distribution of sites of spontaneous and induced breakages. Hum. Genet. 58:279-281, 1981. [PubMed: 7327548]
    No band
  • Gahrton G, Robert K H, Friberg K, Juliusson G, Biberfeld P, Zech L: Cytogenetic mapping of the duplicated segment of chromosome 12 in lymphoproliferative disorders. Nature 297:513-514, 1982. [PubMed: 7088132]
    These loci are thought to be in the segment between q13 and q32.
    No band
  • Gamal S M, Hasegawa T, Satoh H, Watanabe T, Endo K, Satoh Y: Cytogenetic study of a severe case of Pallister-Killian syndrome using fluorescence in situ hybridization. Jpn. J. Hum. Genet. 39:259-267, 1994. [PubMed: 8086644]
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian
    No band
  • Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, Picq M, Munnich A, Romana S, de Blois Mc, Vekemans M.: Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. AJMG DOI=10.1002/ajmg10877; 116A:90-93, 2003. [PubMed: 12476459]
    47,XY,+i(12p)
    The patient was 15 years old with minor facial manifestations and mild MR.
    These authors suggest that a skin biopsy ought to be considered in adult patients presenting with MR, coarse face, and prognathism.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
  • Genevieve D, Sznajer Y, Raoul M, Sanlaville D, Verloes A, Portnoi M F, Bauman C.: Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p). AJMG DOI=10.1002/ajmg.a.20306; 122A:180-182, 2003. [PubMed: 12955773]
    Skin=46,XY[1]/47,XY,+i(12p)[61].
    The 18 month old patient had several characteristics of both OFD type IX and PKS syndromes, along with severe psychomotor retardation, severe hypotonia, epilepsy and unable to sit up.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12+
    Index Terms: OFD type IX,PKS
  • Gilgenkrantz S, Droulle P, Schweitzer M, Foliguet B, Chadefaux B, Lombard M, Chery M, Prieur M: Mosaic tetrasomy 12p. Clin. Genet. 28:495-502, 1985. [PubMed: 2934184]
    Mrs. B., 000049, delivered after 29 weeks and died soon after birth.
    47,XX,i(12p).
    Aberration: Isochromosome
    No band
  • Hall B D: Mosaic tetrasomy 21 is mosaic tetrasomy 12p some of the time. Clin. Genet. 27:284-285, 1985. [PubMed: 3987079]
    No band
  • Horn D, Majewski F, Hildebrandt B, Korner H.: Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts. J. Med. Genet. 32:68-71, 1995. [PMC free article: PMC1050184] [PubMed: 7897632]
    Two cases are presented: one each from Berlin and Dusseldorf.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
    No band
  • Horneff G, Majewski F, Hildebrand B, Voit T, Lenard H G: Pallister-Killian syndrome in older children and adolescents. Pediat. Neurol. 9:312-315, 1993. [PubMed: 8216546]
    Patient 1 was 16 years old.
    Blood-46,XY/Skin-47,XY,+i(12p).
    Patient 2 was 21 years old and seen for genetic counseling of her healthy brother.
    Blood-46,XX/Skin-47,XX,+i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome,Adolescent
    No band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Soukup S W, Neidich K: Prenatal diagnosis of Pallister-Killian syndrome. AJMG 35:526-528, 1990. [PubMed: 1692181]
    mos46,XY/47,XY,+i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Valerio D, De Ponte E, Lavorgna F, Delrio G: Mosaic tetrasomy 12p: a new case. Prenat. Diag. 12:311-312, 1992. [PubMed: 1614989]
    Patient D.G.
    mos46,XX/47,XX,+i(12p)(43.3%).
    An amniocentesis was performed for AMA. No fetal abnormalities were detected from a sonographic study.
    Aberration: Isochromosome
    No band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Warburton D, Anyane-Yeboa K, Francke U: Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-mosiac syndrome cases. AJMG 27:275-283, 1987. [PubMed: 3605213]
    mos46,XX/47,XX,+i(12p)(18.2%).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Wilson R D, Harrison K, Clarke L A, Yong S L.: Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase FISH. Prenat. Diag. 14:787-792, 1994. [PubMed: 7845885]
    Cases 1 and 2.
    mos46,XX or XY/47,XX or XY,+i(12p).
    The most consistent anomalies are polyhydramnios with short femurs and a diaphragmatic hernia.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
    No band
  • Hunter A G W, Clifford B, Cox D M: The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin. Genet. 28:47-53, 1985. [PubMed: 4028501]
    Case 1.
    mos46,XY/47,XY,+i(12p)fibroblasts.
    Case 2.
    47,XY,+i(12p)fibroblasts, earlier reported by Hunter et al, 1982 as tetrasomy 21q.
    Aberration: Isochromosome
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Karki C B, Walters R M: Trisomy 12p mosaicism syndrome. J. Ment. Def. Res. 34:75-80, 1990. [PubMed: 2139132]
    mos46,XX/47,XX,+12p
    The 21 year old patient was profoundly mentally retarded.
    Chromosomal Aneuploidy: 12p+
    No band
  • Kawashima H: Skeletal anomalies in a patient with the Pallister/Teschler-Nicola/Killian syndrome. AJMG 27:285-289, 1987. [PubMed: 3605214]
    47,XY,+i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Langford K, Hodgson S, Seller M, Maxwell D.: Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21. Prenat. Diag. 20:670-672, 2000. [PubMed: 10951480]
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
  • Lapierre J M, Cacheux V, Collot N, Da Silva F, Hervy N, Rivet D, Romana S, Wiss J, Benzaken B, Aurias A, Tachdjian G.: Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. Ann. Genet. 41:133-140, 1998. [PubMed: 9833066]
    Sample xii=mos47,XY,+i(12p)[50]/46,XY[50]
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: CGH
  • Larramendy M, Heiskanen M, Wessman M, Ritvanen A, Peltomaki P, Simola K, Kaariainen H, von Koskull H, Kahkonen M, Knuutila S: Molecular cytogenetic study of patients with Pallister-Killian syndrome. Hum. Genet. 91:121-127, 1993. [PubMed: 8462971]
    Larramendy M L.: Decreased proportion of B cells in lectin-stimulated lymphocyte cultures from patients with Pallister-Killian syndrome. Braz. J. Genet. 19:335-338, 1996.
    Peltomaki P, Knuutila S, Ritvanen A, Kaitila I, de la Chapelle A: Pallister-Killian syndrome: cytogenetic and molecular studies. Clin. Genet. 31:399-405, 1987. [PubMed: 2887316]
    Five patients were studied ranging in age from 7 to 18 years.
    mos46,XX/47,XX,+i(12p).
    It is suggested that for cytogenetic diagnosis chromosome painting by chromosomal in situ suppression hybridization be undertaken.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Leube B, Majewski F, Gebauer J, Royer-Pokora B.: Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. AJMG DOI=10.1002.ajmg.a.20339; 123A:296-300, 2003. [PubMed: 14608653]
    mos47,XX,+12p[25%]/46,XX.,Fibroblasts=47,XX,+12p/47,XX,+i(12)(p10)/46,XX[40%].
    The proband was 19 months old.
    Prezygotic maternal origin of 12p material was demonstrated.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
  • Lidsky A S, Robson K J H, Thirumalachary C, Barker P E, Ruddle F H, Woo S L C: The PKU locus in man is on chromosome 12. AJHG 36:527-533, 1984. [PMC free article: PMC1684467] [PubMed: 6547271]
    MIM#: 261600
    No band
  • Lurie I W.: Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity. Clin. Genet. 54:108-109, 1998. [PubMed: 9727754]
    Schaefer G B, Jochar A, Muneer R, Sanger W G.: Clinical variability of tetrasomy 12p. Clin. Genet. 51:102-108, 1997. [PubMed: 9111997]
    Case 1, J.B.:
    mos46,XY/47,XY,+i(12p)(16/20 on the left side and 9/20 on the right side fibroblast culture preparations). Confirmed by FISH. Blood was normal.
    Features were typical for the Pallister-Killian syndrome. At 22 months he was found to be functioning at 6-9 month level.
    Case 2, D.B.:
    Skin=mos46,XY/47,XY,+i(12p); blood was normal.,Confirmed by FISH.
    Patient has been followed upto 7 years of age and found to have hearing loss, mild delays in speech, and hypopigmented areas.
    Case 3, M.R:
    Skin=47,XX,+i(12p); Blood was normal.
    The patient has been followed till 8 years of age and does have many unusual features but not symptomatic of the syndrome.
    This patient was reported earlier Lubinsky et al (1983) in J. Clin. Dysmorph. 1:25-27.
    Case 4, D.A.:
    Skin=47,XX,+i(12p); blood was normal.
    Patient does not have features of the PKS.
    LDH activity was consistent with 12p excess.
    Case 5, R.D.:
    Skin=mos47,XX,+i(12p) in 60%/46,XX.,Blood was normal.
    First evaluated at the age of 5 months for unusual features including widow''s peak hairline, iris heterochromia, small pupils, hypertelorism, hypoplastic nasal tip and posteriorly rotated ears.
    Features not symptomatic of the syndrome.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
  • Machin G A, Crolla J A: Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik 23:183-198, 1974. [PubMed: 4844640]
    Case No. 24 in this report.
    46,XX,t(12q17q).&This karyotype interpretation is difficult -> follow.
    Aberration: Whole-arm translocations
    Index Terms: Perinatal death
    No band
  • Marques-de-Faria A P, Hackel C: A case of de novo i(12p) with 12q whole-arm translocation mosaicism. AJMG 33:453-456, 1989. [PubMed: 2596503]
    mos46,XX,-7,-12,+der(7),t(7;12)(p22;q11),+i(12p)/ 46,XX,-7,-12,+der(7),t(7;12)(q36;q11),+i(12p)/ 46,XX,-11,-12,+der(11),t(11;12)(q25;q11),+i(12p).
    Patient was 3 years old with multiple congenital anomalies, psychomotor retardation, and generalized hypotonia.
    The dup(12p) syndrome was confirmed by LDH-dosage studies.
    Aberration: IC,ST
    Chromosomal Aneuploidy: 12p+
    No band
  • Mathieu M, Piussan Ch, Thepot F, Gouget A, Lacombe D, Pedespan J M, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle J P, Croquette M F, Teyssier M, Plauchu H, Pelissier M C, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, LeMerrer M, Gonzalez M, Joye N, Taillemite J L, Bouillie J, Eschard C, Motte J, Journel H.: Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (Nineteen fetuses or children). Ann. Genet. 40:45-54, 1997. [PubMed: 9150850]
    Only one single report of recurrence!
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
  • McLean S, Stanley W S, Stern H, Fonda-Allen J, Devine G, Ellingham T, Rosenbaum K N: Prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescence in situ hybridization. Prenat. Diag. 12:985-991, 1992. [PubMed: 1287646]
    mos46,XX(3 cells)/47,XX,+i(12p)(11 cells)-amniotic fluid.&mos46,XX(3%)/47,XX,+i(12p)(97%)-skin.
    Polyhydramnios was noted at 24 weeks by ultrasonography. The baby born at 34 weeks died in an hour after birth. There were MCA.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • McLeod D R, Wesselman L R, Hoar D I: Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage. J. Med. Genet. 28:541-543, 1991. [PMC free article: PMC1016985] [PubMed: 1920372]
    Blood:mos46,XX(4%)/47,XX,+i(12p)(96%).&Fibroblasts:47,XX,+i(12p).
    Additional features were polyhydramnios at 8 weeks; cleft palate, diaphragamtic hernia, sacral appendage and imperforate anus.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Sacral ... appendage,Imperforate anus,Cleft lip/palate,Diaphragmatic hernia
    No band
  • McPherson E W, Ketterer D M, Salsburey D J: Pallister-Killian and Fryns syndromes: nosology. AJMG 47:241-245, 1993. [PubMed: 8213912]
    MIM#: 229850
    Index Terms: Fryns syndrome,Pallister-Killian syndrome
    No band
  • Mowery-Rushton P A, Stadler M P, Kochmar S J, McPherson E, Surti U, Hogge W A.: The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome. Prenat. Diag. 17:255-265, 1997. [PubMed: 9110370]
    2 cases are presented.
    Case 1:mos47,XX,+i(12p)/46,XX.,Case 2:Amniotic fluid=46,XY;Skin, Umbilical cord and placenta=47,XY.+ ish i(12p)(D12Z3x3)
    Diaphragmatic hernia and abnormal ultrasound findings led the authors to perform extensive work-up in these patients.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
    No band
  • Narahara K, Wakita Y, Kikkawa K, Hiramoto K, Namba H, Murakami M, Kasai R, Kimoto H: Pallister-Killian syndrome: cytogenetic and biochemical studies. Jpn. J. Hum. Genet. 33:339-347, 1988. [PubMed: 3204687]
    Blood-mos46,XY(57.1%)/47,XY,+i(12p)(42.9%).&Skin fibroblasts-mos46,XY(9.6 -> 47.4%)/47,XY,+i(12p)(89.4 -> 52.6%).
    The stillborn had anomalies consistent with this condition.
    The decreasing proportion of trisomic cells were found in subsequent passages.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Ohashi H, Ishikiriyama S, Fukushima Y: New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization. AJMG 45:123-128, 1993. [PubMed: 8418650]
    Patient 1. K.F.(S-3-9915-1).
    mos46,XY/47,XY,+i(12p).
    Patient 2. (C-1137-3).
    mos46,XX/47,XX,+i(12p).
    Both patients were diagnosed with PD syndrome and were found to have much higher proportion of trisomic cells by the newer technique.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Paladini D, Borghese A, Arienzo M, Teodoro A, Martinelli P, Nappi C.: Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile. Prenat. Diag. 20:996-998, 2000. [PubMed: 11113913]
    Blood (cordocentesis)=46,XY[88%]/47,XX,i(12p)[12%].,Amniocytes=46,XX[50%]/47,XX,+i(12p)[50%].
    The 40 year old patient was referred for evaluation of a diaphragmatic hernia in a 21 weeks'' gestation fetus. She had earlier refused karyotyping by amniocentesis for advanced maternal age diagnosis. The diagnosis of PKS was confirmed after termination.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
  • Pallister P D, Meisner L F, Elejalde B R, Francke U, Herrmann J, Spranger J, Tiddy W, Inhorn S L, Opitz J M: The Pallister mosaic syndrome. BD-OAS XIII(No. 3B):103-110, 1977. [PubMed: 890087]
    Two patients earlier reported as mosaic 20 trisomy have been restudied (see entry of Pallister et al, 1976 under 20+). The reinterpretations are (1) the extra chromosome is an isochromosome of the short arm of 12 (Francke) or (2) it is a 12 with a partial deletion of the long arm q13 -> qter (Elejalde). Further studies are reported -> be in progress in La Jolla and Madison -> settle this question.
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Pan S F, Fatora S R, Haas J E, Steele M W: Trisomy of chromosome 20. Clin. Genet. 9:449-453, 1976. [PubMed: 1269166]
    Steele M W, Lenkey S: Trisomy of chromosome 20/isochromosome 12p. Clin. Genet. 38:79, 1990. [PubMed: 2387089]
    47,XX,+i(12p).
    The subject expired four hours after birth. Unusual facial features, multiple congenital malformations and severe anomalies of the gastrointestinal system were present. Spinal anomalies were also found in this case and four previously reported cases. Chromosome analyses from fibroblasts cultured from lung tissue.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Face ... anomalies,Gastrointestinal anomalies,Spinal anomalies
    No band
  • Pauli R M, Zeier R A, Sekhon G S: Mosaic isochromosome 12p. AJMG 27:291-294, 1987. [PubMed: 3605215]
    Patient died within 50 minutes after birth.
    Tissue:47,XX,+i(12p).&Blood:(10)47,XX,+i(12p)/(40)46,XX.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Plaja A, Mediano C, Farran I, Vendrell T, Toran N, Gili T, Sanchez M A, Sarret E.: Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus. Ann. Genet. 41:52-55, 1998. [PubMed: 9599652]
    Amniotic fluid=47,XY,-12,+12q,+psu idic(12p).,Fetal skin=mos47,XY,-12,+12q,+psu idic(12p)[92%]/,47,XY,-12,-21,+12q,+psu idic(12p),+der(21)t(14;21)(q13;p13)[8%].
    The case was ascertained prenatally because of advanced maternal age (37yrs). Necropsy revealed absence of brachiocephalic truncus, macrostomia, and other dysmorphic features.
    Aberration: IC,DI
    Chromosomal Aneuploidy: 12p+
  • Plaja A, Miro R, Lloveras E, Sarret E, Fernandez B, Egozcue J.: Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending. Ann. Genet. 47:429-432, 2004. [PubMed: 15581843]
    Index Terms: Non-random bending
  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,t(12;20)(12p20q;20p12q).
    Aberration: Whole-arm translocations
    No band
  • Priest J H, Rust J M, Fernhoff P M: Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis. AJMG 42:820-824, 1992. [PubMed: 1554021]
    mos46,XX/47,XX,+i(12p).
    There was polyhydramnios and diaphragmatic hernia in a third trimester case. Baby died immediately after birth at 35 weeks.
    Young cultures at early passages are more likely to have +i(12p) than old cultures. Cultures from young (especially fetal) donors are more likely to retain +i(12p) than cultures from adult donors.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Mosaicism,Tissue specificity
    No band
  • Priest J H: Prenatal diagnosis of tetrasomy 12p (Pallister-Killian syndrome). Prenat. Diag. 13:152, 1993. [PubMed: 8464838]
    Tejada M I, Uribarren A, Briones P, Vilaseca M A: A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome). Prenat. Diag. 12:529-534, 1992. [PubMed: 1513756]
    mos46,XY(4 clones)/47,XY,+i(12p)(29 clones).
    Hydramnios, omphalocele, and a short femur length was observed.
    Priest (1993) concludes that prediction of severity for organ defects based on the mosaicism detected is unlikely to be the case.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Omphalocele,Hydramnios,Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Quarrell O W J, Hamill M A, Hughes H E: Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. AJMG 31:841-844, 1988. [PubMed: 3239576]
    Skin fibroblasts not subcultured:mos46,XY(88.75%-213)/47,XY,+i(12p)(11.25%-27).
    Patient seen at 36 years of age with coarse facial appearance, large tongue, thick lips, high forehead, and broad nasal root with profound mental retardation.
    Blood cultures and two fibroblasts cultures which were subcultured showed normal karyotypes.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Raffel L J, Mohandas T K, Rimoin D L: Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome. AJMG 24:607-611, 1986. [PubMed: 3740095]
    Patient was 4 8/12 years old.
    mos46,XX(90%)/47,XX,+i(12p)(10%).
    Aberration: Isochromosome
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Reynolds J F, Daniel A, Kelly T E, Gollin S M, Stephan M J, Carey J C, Adkins W N, Webb M J, Char F, Jimenez J F, Opitz J M: Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. AJMG 27:257-274, 1987. [PubMed: 3605212]
    47,XX or XY,+i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Rodriguez J I, Garcia I, Alvarez J, Delicado A, Palacios J: Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. AJMG 53:176-181, 1994. [PubMed: 7856644]
    Patient 1:
    mos46,XY/47,XY,+i(12p)(10% & 63% in lymphocytes and Kidney cells respectively).
    Patient 2:
    mos46,XY/47,XY,+i(12p)(1/19 cells in lymphocyte cultures).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
    No band
  • Sakaguchi A Y, Naylor S L, Shows T B, Toole J J, McCoy M, Weinberg R A: Human c-Ki-ras2 proto-Oncogene on chromosome 12. Science 219:1081-1083, 1983. [PubMed: 6823569]
    Index Terms: Oncogene
    No band
  • Scherer S E, Muzny D M, Buhay C J, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris R A, Hawes A C, Hernandez J, Hodgson A V, Hume J, Jackson A, Khan Z M, Kovar-Smith C, Lewis L R, Lozado R J, Metzker M L, Milosavljevic A, Miner G R, Montgomery K T, Morgan M B, Nazareth L V, Scott G, Sodergren E, Song X-Z, Steffen D, Lovering R C, Wheeler D A, Worley K C, Yuan Y, Zhang Z, Adams C Q, Ansari-Lari M A, Ayele M, Brown M J, Chen G, Chen Z, Clerc-Blankenburg K P, Davis C, Delgado O, Dinh H H, Draper H, Gonzalez-Garay M L, Havlak P, Jackson L R, Jacob L S, Kelly S H, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen B-V, Okwuonu G O, Pasternak S, Perez L M, Plopper F J H, Santibanez J, Shen H, Tabor P E, Verduzco D, Waldron L, Wang Q, Willimas G A, Zhang J, Zhou J, The Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team, Nelson D, Kucherlapati R, Weinstock G, Gibbs R A. : The finished DNA sequence of human chromosome 12. Nature 440:346-351, 2006. [PubMed: 16541075]
    Index Terms: DNA sequence
  • Schinzel A A: Tetrasomy 12p (Pallister-Killian syndrome). J. Med. Genet. 28:122-125, 1991. [PMC free article: PMC1016781] [PubMed: 2002482]
    Data on the syndrome has been reviewed.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G.: Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selection. AJMG 72:106-110, 1997. [PubMed: 9295085]
    Viersbach R, Engels H, Gamerdinger U, Hansmann M.: Delineation of supernumerary marker chromosomes in 38 patients. AJMG 76:351-358, 1998. [PubMed: 9545101]
    Case 1:
    First amniotic fluid=mos46,XX[77%]/47,XX,+i(12p)[23%].,Second amniotic fluid=mos46,XX[88%]/47,XX,+i(12p)[12%].,Fetal blood culture=46,XX[100 cells]. CVS+mos46,XX[78%]/47,XX,+i(12p)[19%]/48,XX,+2i(12p)[3%].
    Stillbirth at 27 weeks. Mother was 44 and father was 54.
    Case 2:
    Blood=46,XX[25 cells];, second analyses=2/57 metaphases were 47,XX,+i(12p).,Skin fibroblasts=mos46,XX/47,XX,+i(12p)[7/93% in 55 cells].
    The infant with MCA died 3 days after birth.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
    No band
  • Sharland M, Hill L, Patel R, Patton M: Pallister-Killian syndrome diagnosed by chorionic villus sampling. Prenat. Diag. 11:477-479, 1991. [PubMed: 1754566]
    47,XX,+i(12p)(93%).
    Fetal hydrops was noted.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Fetal hydrops
    No band
  • Shivashankar L, Whitney E, Colmorgen G, Young T, Munshi G, Wilmoth D, Byrne K, Reeves G, Borgaonkar D S, Picciano S R, Martin-DeLeon P A: Prenatal diagnosis of tetrasomy 47,XY,+i(12p) confirmed by in situ hybridization. Prenat. Diag. 8:85-91, 1988. [PubMed: 3362782]
    Parental karyotypes were normal. One of the few non-mosaic, live-born cases of this condition and follow-up with the family is reported.
    47,XY,+i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Speleman F, Leroy J G, Van Roy N, De Paepe A, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae M R, Orye E: Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization. AJMG 41:381-387 1991, [PubMed: 1789295]
    Patients E.R., S.V.D.C., and D.G.S. are presented.
    mos46,XX/47,XX,+i(12p).
    FISH technique was used to confirm the identification of i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome,FISH
    No band
  • Stalker H J, Gray B A, Bent-Willimas A, Zori R T.: High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome. AJMG Part A: 140A: 1950-1954, 2006. [PubMed: 16906561]
    After birth and during the first year of age=46,XX with one cell marker 22.,At 15 months, and with some features of PKS=blood=46,XX and in fibroblasts=46,XX[37]/47,XX,+i(12p)[15].
    At the age of 14, patient referred for midface distraction due to severe midface hypoplasia.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: PKS
  • Steinbach P, Rehder H: Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect. Clin. Genet. 32:1-4, 1987. [PubMed: 3476222]
    47,XX,+i(12p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Stengel-Rutkowski S, Albert A P, Murken J D, Zahn-Messow K, Rodewald A, Zankl M, Saule H, Stene J: New chromosomal dysmorphic syndromes. 4. Trisomy 12p. Europ. J. Ped. 136:249-262, 1981. [PubMed: 7262097]
    46,XX, rcp(12;21)(q12;q11).&"46,XX,der(12) t(12;21)mat."&"46,XX,t(12;14)(12q14p;12p14q)."&"46,XY,der(14)t(12;14)mat."&Based on these two cases and 21 cases reported so far, 12p trisomy syndrome is described.
    Aberration: Reciprocal translocation
    No band
  • Tanaka S.: Development and education in childhood. The constructive theory on subject-object activity in human developemnt. Part 1. A case study of a profoundly handicapped infant. Kyoto Univ. Acad. Press, Kyoto, Japan, 132pp., 1996.
    Patient Kaz was born in 1992 and this little book describes the life she led and the experiences of the professionals who were involved in her care.
    47,XX,+i(12p)
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Tharapel S A, Dev V G.: Direct karyotyping of unstimulated newborn blood: a rapid diagnostic method for the clinical management of critically ill newborns. AJMG 72:351-353, 1997. [PubMed: 9332669]
    Rapid=47,XX,+i(12)(p10)[10]/46,XX[1].,Conventional 72 hrs PHA stimulated=46,XX[50].,Skin fibroblast=47,XX,+i(12)(p10)[10]/46,XX[10]
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Direct karyotyping
  • Thornburg Reeser S L, Wenger S L: Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome. AJMG 42:815-819, 1992. [PubMed: 1554020]
    Wenger S L, Boone L Y, Steele M W: Mosaicism in Pallister i(12p) syndrome. AJMG 35:523-525, 1990. [PubMed: 2333883]
    mos46,XY/47,XY,+i(12p).
    The newborn was diagnosed clinically and confirmation obtained by bone marrow karyotype. Mosaicism was present in blood and tissue culture preparations.
    In situ hybridization using an alpha satellite probe showed that the interphase nuclei do have the i(12p) in higher proportion than the metaphases examined.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome ... Teschler-Nicola syndrome
    No band
  • Turleau C, Simon-Bouy B, Austruy E, Grisard M C, Lemaire F, Molina-Gomes D, Siffroi J P, Boue J.: Parental origin and mechanisms of formation of three cases of 12p trisomy. Clin. Genet. 50:41-46, 1996. [PubMed: 8891385]
    All three cases were mosaics.
    mos47,XX or XY,+i(12p)/46,XX or XY.
    Errors appear to be maternal in origin and in one case in meiosis.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pallister-Killian syndrome
    No band
  • Van den Veyver I B, Macha M E, McCaskill C, Carpenter R J, Jr, Shaffer L G: Prenatal diagnosis and clinical findings in a case of hexasomy 12p. AJMG 47:1171-1174, 1993. [PubMed: 8291550]
    mos46,XX[42]/48,XX,+i(12p),+i(12p)[8]-Amniotic fluid.,mos46,XX[1]/48,XX,+i(12p),+i(12p)[18]-Skin, after birth.,46,XX[38]-blood.
    Ultrasound examination at 30 weeks gestation showed massive polyhydramnios, and IUGR with decreased fetal movement.
    FISH studies with alphoid DNA probe, D12Z3 oncor, were done to confirm the abnormality.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Hexasomy
    No band
  • Viggiano L, Miolla V, Ricco A, Storlazzi C T, Pennacchia M, Fratello A, Mancini M, Marzella R, Archidiacono N, Rocchi M.: Molecular cytogenetic resources for chromosome 12. AJMG 87:40-44, 1999. [PubMed: 10528245]
  • Ward B E, Hayden M W, Robinson A: Isochromosome 12p mosaicism (Pallister-Killian syndrome): Newborn diagnosis by direct bone marrow analysis. AJMG 31:835-839, 1988. [PubMed: 3239575]
    Bone marrow: 47,XY,+i(12p)-direct.&Bone marrow: 47,XY,+i(12p)-48 hour culture with PHA-7/30.&Blood: 3/30 were trisomic at birth.&Blood: All normal at 2 months of age.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Wenger S L, Steele M W, Yu W D: Risk effect of maternal age in Pallister i(12p) syndrome. Clin. Genet. 34:181-184, 1988. [PubMed: 3180504]
    Data on 30 cases are analysed.
    47,XX,+i(12p).
    Average maternal age was 30 and paternal age was 34 years.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    No band
  • Young I D, Duckett D P, O''Reilly K M: Lethal presentation of mosaic tetrasomy 12p (Pallister-Killian) syndrome. Ann. Genet. 32:62-64, 1989. [PubMed: 2751252]
    mos46,XY/47,XY,+i(12p).
    The patient died after 8 hours; and had a dysmorphic facies and large diaphragmatic hernia.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Diaphragmatic hernia
    No band
  • Zakowski M F, Wright Y, Ricci A, Jr: Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome). AJMG 42:323-325, 1992. [PubMed: 1536171]
    Blood:mos46,XX(90%)/47,XX,+i(12p)(10%).&Fibroblasts:mos46,XX(43)/47,XX,+i(12p)(47).
    The stillborn infant had the classic signs of the PKS.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 12p+
    Index Terms: Pericardial agenesis,Aplasia cutis
    No band
  • Zhang J, Marynen P, Devriendt K, Fryns J P, Van den Berghe H, Cassiman J J: Molecular analysis of the isochromosome 12p in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome. Hum. Genet. 83:359-363, 1989. [PubMed: 2807276]
    Aberration: Isochromosome
    No band
  • Zollino M, Bajer J, Neri G.: Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a pitfall in prenatal diagnosis. Prenat. Diag. 19:184-185, 1999. [PubMed: 10215084]
    Amniotic fluid=46,XY[20].,Blood=46,XY[100].,Fibroblasts=47,XY,+i(12p)[26%].
    At the age of one month, the clinical diagnosis of Pallister-Killian syndrome was suspected and extensive karyotyping was done.
    Aberration: Isochromosome
    MIM#: 601803
    Chromosomal Aneuploidy: 12p+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107032
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