Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1787-1793

  Berend, Sue Ann ^a   Horwitz, Juli ^b   McCaskill, Christopher ^a   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Genzyme Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACROCENTRIC CHROMOSOME; ANEUPLOIDY; ARTICLE; CHROMOSOME 14Q; CHROMOSOME 15Q; FETUS; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; ISOCHROMOSOME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; UNIPARENTAL DISOMY;

EID: 0033926871     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302916     Document Type: Article

References (25)

1. Berend SA, Feldman GL, McCaskill C, Czarnecki P, Van Dyke DL, Shaffer LG (1999) Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am J Med Genet 82:275-281
2. Cassidy SB, Li-Wen L, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J (1992) Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 51:701-708
3. Cheung SW, Page SL, Shaffer LG, Richards CS, Riconda DL (1997) Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15. Am J Med Genet 72:47-50
4. Engel E (1980) A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143
5. Hamerton JL, Canning N, Ray M, Smith S (1975) A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 8:223-243
6. Han J-Y, Choo KHA, Shaffer LG (1994) Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints. Am J Hum Genet 55:960-967
7. Harris DJ, Hankins L, Begleiter ML (1979) Reproductive risk of t(13q14q) carriers: case report and review. Am J Med Genet 3:175-181
8. Hook EB (1977) Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use. Am J Hum Genet 29:94-97
9. Klein J, Shaffer LG, McCaskill C, Scheerer L, Otto C, Main D, Thangaveul M, et al (1999) Delineation of the paternal disomy 14 syndrome: identification of a case by prenatal diagnosis. Am J Hum Genet 65:A179
10. Koehler KE, Hawley RS, Sherman S, Hassold T (1996) Recombination and nondisjunction in humans and flies. Hum Mol Genet 5:1495-1504
11. Kotzot D (1999) Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82: 265-274
12. Lai EC, Kao FT, Law ML, Woo SL (1983) Assignment of the α1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization. Am J Hum Genet 35:385-392
13. Ledbetter DH, Engel E (1995) Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764
14. Mares A Jr, Ledbetter SA, Ledbetter DH, Roberts R, Hejtmancik JF (1991) Isolation of a human chromosome 14 - only somatic cell hybrid: analysis using Alu and LINE-based PCR. Genomics 11:215-218
15. Neri G, Serra A, Campana M, Tedeschi B (1983) Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. Am J Med Genet 16:535-561
16. Page SL, Shin J-C, Han J-Y, Choo KHA, Shaffer LG (1996) Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet 5: 1279-1288
17. Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, Schinzel AA (1996a) Molecular studies of translocations and trisomy involving chromosome 13. Am J Med Genet 61:158-163
18. Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S, Ledbetter DH, et al (1996) Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn 16:837-844
19. Shaffer LG, McCaskill C, Adkins K, Hassold TJ (1998) Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. Am J Med Genet 79:366-372
20. Shaffer LG, McCaskill C, Haller V, Brown JA, Jackson-Cook C (1993a) Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations. Am J Med Genet 47:1218-1222
21. Shaffer LG, McCaskill C, Han J-Y, Choo KHA, Cutillo DM, Donnenfeld AE, Weiss L, et al (1994) Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968-974
22. Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH (1993b) Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 47:383-386
23. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, et al (1988) Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226
24. Sullivan BA, Jenkins LS, Karson EM, Leana-Cox J, Schwartz S (1996) Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. Am J Hum Genet 59:167-175
25. Therman E, Susman B, Denniston C (1989) The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet 53:49-65