Molecular analysis of a family with three cases of first cousins with free trisomy 21 excludes the existence of a familial predisposing factor for nondisjunction
- Diagnostic Genetic Center, Athens (Greece)
- Institut Europeen des Genomutations, Lyon (France); and others
We have studied a French family with three individuals, paternally related first cousins, that presented free and complete trisomy 21. Using short sequence repeat polymorphisms from chromosome 21, we analyzed the DNA of two of the three affected individuals that were available. We determined the parental origin of the supernumerary chromosome in both cases. The trisomy in these cases was found to be due to maternal meiotic errors. Since the individuals were related through their paternal grandparents (their fathers were siblings) we conclude that the recurrence of trisomy 21 in this family is a result of chance and is not due to any possible genetic predisposing factors. This is in accordance with previous results on recurrent trisomy 21 families, where predisposing factors were also often excluded through the same kind of analysis.
- OSTI ID:
- 134589
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1324
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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