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

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134589

Girginoudis, P; Avramopoulos, D ^[1]; Robert, E ^[2]

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1. Diagnostic Genetic Center, Athens (Greece)
2. 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--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA SEQUENCING
FRANCE
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
MEIOSIS
NON-DISJUNCTION
PATIENTS