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Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

✍ Scribed by Mansouri, Mahmoud Reza; Marklund, Lena; Gustavsson, Peter; Davey, Edward; Carlsson, Birgit; Larsson, Catharina; White, Irene; Gustavson, Karl-Henrik; Dahl, Niklas


Book ID
110026349
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
297 KB
Volume
13
Category
Article
ISSN
1018-4813

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## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr

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The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe mental retardation, epilepsy, muscular hypotonia, and variable minor anomalies. By molecular karyotyping we identifie