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Dermatoglyphics in parents of children with trisomy 21 : Evaluation of their interest in genetic counselling

✍ Scribed by Ségolène Ayme; Mark-Genevieve Mattei; J. F. Mattei; Yvette Aurran; F. Giraud

Book ID
119838939
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
368 KB
Volume
15
Category
Article
ISSN
0009-9163

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Unusual genotypes in the COL6A1 gene in
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects
✍ Gail E. Davies; Catherine M. Howard; Mathew J. Farrer; Michelle M. Coleman; Loui 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 424 KB

Collagen type VI is a candidate for a role in the pathogenesis of congenital heart defects (CHD) in Down's syndrome. Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital hear