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