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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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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

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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