We report on a cytogenetic study of 100 subjects with Down syndrome (DS), diagnosed from 1980 to 1988, and their parents. Free trisomy was present in 95% of the patients; 5% had trisomy due to an unbalanced translocation. Approximately 60% of patients were born to mothers younger than age 35 years,
Study of the origin of nondisjunction in a family with two cases of Down syndrome using cytogenetic and molecular polymorphisms
β Scribed by Stinissen, Piet ;Van Roy, Bernadette ;Van Camp, Guy ;Backhovens, Hubert ;Partoens, Peter ;Wehnert, Anita ;Verniers, Heidi ;Dumon, Jan ;Vandenberghe, Antoon ;Van Broeckhoven, Christine
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 400 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
We analyzed the possibility of inherited predisposition to nondisjunction in a family with two cases of Down syndrome using restriction fragment length polymorphisms and cytogenetic heteromorphisms. In both patients the extra chromosome 21 was the result of a nondisjunction event at first meiotic division in the mother. Since both patients are maternally related, genetic predisposition cannot be excluded in this family.
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