Parental origin of the isochromosome 12p in Pallister-Killian syndrome: Molecular analysis of one patient and review of the reported cases

American Journal of Medical Genetics

Volumn 84, Issue 2, 1999, Pages 111-115

  Struthers, J L ^a   Cuthbert, C D ^a   Khalifa, M M ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

Isochromosome 12p; Mosaicism; Pallister Killian syndrome; Parental origin; Premeiotic error

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12P; CHROMOSOME MOSAICISM; HUMAN; ISOCHROMOSOME; MALE; MEIOSIS; PALLISTER KILLIAN SYNDROME; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 12; FATHERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ISOCHROMOSOMES; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MODELS, GENETIC; MOTHERS; PEDIGREE; PHENOTYPE; SKIN PIGMENTATION; SYNDROME;

EID: 0032954313     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990521)84:2<111::AID-AJMG5>3.0.CO;2-B     Document Type: Article

References (23)

1. Bielanska MM, Khalifa MM, Duncan AMV. 1996. Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. Am J Med Genet 65:104-108.
2. Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. 1997. Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am J Med Genet 69:166-168.
3. Gilgenkrantz S, Droullé P, Schweitzer M, Foliguet B, Chadefaux B, Lombard M, Chéry M, Prieur M. 1985. Mosaic tetrasomy 12p. Clin Genet 28:495-502.
4. Gross-Bellard M, Oudet P, Chambon P. 1973. Isolation of high-molecular-weight DNA from mammalian cells. Eur J Biochem 36:32-38.
5. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Milasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. 1994. The 1993-1994 Généthon human genetic linkage map. Nat Genet 7:246-339.
6. Hall B. 1983. Teschler-Nicola/Killian syndrome: a sporadic case in an 11-year-old male. J Clin Dysmorphol 1(3):14-17.
7. Hersh JH Jr, Graham JM, Destrempes MM, Greenstein RM. 1983. Syndrome identification case report 105 Teschler-Nicola/Killian syndrome: a case report. J Clin Dysmorphol 1:20-24.
8. Hunter AGW, Clifford B, Cox DM. 1985. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet 28:47-53.
9. Lahiri DK, Nurnberger JI. 1991. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444.
10. Los FJ, Van Opstal D, Schol MP, Gaillard JLJ, Brandenburg H, Van den Ouweland AMW, in't Veld PA. 1995. Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome. Prenat Diagn 15:1155-1159.
11. Lubinsky M, Sanger W. 1984. Killian syndrome and mosaic tetrasomy 12p. J Clin Dysmorphol 2:5.
12. Pallister PD, Meisner LF, Elejade, BR, Francke U, Herrmann J, Spranger J, Tiddy E, Inhorn SL, Opiz JM. 1977. The Pallister mosaic syndrome. BD:OAS XIII (3B):103-110.
13. Peltomaki P, Knuutila S, Ritaven A, Katila I, de la Chapelle A. 1987. Pallister-Killian syndrome: cytogenetic and molecular studies. Clin Genet 31:399-405.
14. Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF, Opitz JM. 1987. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome. Report of 11 cases. Am J Med Genet 27:257-274.
15. Rimoin DL, Raffel L, Mohandas T. 1983. Clinical features of tetrasomy 12p. J Clin Dysmorphol 1:31.
16. Rivera H, Rivas F, Cantú JM. 1986. On the origin of extra isochromosome. Clin Genet 29:540-541.
17. Schinzel A. 1991. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122-125.
18. Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G. 1997. Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue specific mosaicism and loss of i(12p) by in vitro selection. Am J Med Genet 72:106-110.
19. Turleau C, Simon-Buoy B, Austruy E, Grisard M-C, Lemaire F, Molina-Gomes D, Siffroi J-P, Boué J. 1996. Parental origin and mechanisms of formation of three cases of tetrasomy. Clin Genet 50:41-46.
20. Van Dyke DL, Babu VR, Weiss L. 1987. Parental age, and how extra isochromosome (secondary trisomy) arise. Clin Genet 32:75-80.
21. Vine D, Kaffe S, Arrendondo-Vega F, Desnick RJ, Smith M. 1984. Teschler-Nicola/Killian syndrome and mosaic tetrasomy 12p. J Clin Dysmorphol 2:7.
22. Wenger SL, Steele MW, Yu W-D. 1988. Risk effect of maternal age in Pallister i(12p) syndrome. Clin Genet 34:181-184.
23. Wenger S, Boone LY, Steele MW. 1990. Mosaicism in Pallister i(12p) syndrome. Am J Med Genet 35:523-525.