Of the gene-rich regions of the human genome, Xq28 is the most densely mapped. Mutations of genes in this band are responsible for 10 syndromal forms of mental retardation and 5 nonsyndromal forms. Clinical and molecular studies reported here add an additional syndromic form of X-linked mental retar
✦ LIBER ✦
Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
✍ Scribed by Oliver Bartsch; Konstanze Gebauer; Stanislav Lechno; Hilde van Esch; Guy Froyen; Michael Bonin; Jörg Seidel; Barbara Thamm-Mücke; Denise Horn; Eva Klopocki; Christoph Hertzberg; Ulrich Zechner; Thomas Haaf
- Book ID
- 101455120
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 214 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting Xlinked inheritance. The affected males had promi