Article
A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype.
American journal of medical genetics. Part A - 1 Feb 2005
Akahoshi Keiko, Ohashi Hirohumi, Hattori Yukio, Saitoh Shinji, Fukushima Yoshimitsu, Wada Takahito
Abstract excerpt
We report a Japanese woman with 46,XX,dup(16)(p13.11p13.3), who closely resembled the phenotype of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, MIM # 301040). Although she never had alpha-thalassemia, she showed characteristic clinical features including severe mental retardation, characteristic facies and behavior. ATR-X is caused by mutations of the ATRX gene. Although the function of ATRX...
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