Article
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
American journal of medical genetics. Part A - 15 Jun 2003
Frints Suzanna G M, Jun Lin, Fryns Jean-Pierre, Devriendt Koen, Teulingkx Rudi, Van den Berghe Lut, De Vos Bernice, Borghgraef Martine, Chelly Jamel, Des Portes Vincent, Van Bokhoven Hans, Hamel Ben, Ropers Hans-Hilger, Kalscheuer Vera, Raynaud Martine, Moraine Claude, Marynen Peter, Froyen Guy
Abstract excerpt
We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, and facial dysmorphism. Until now, no other patients with similar clinical features have been described in the literature. Molecular analysis of both breakpoints led to the identification...
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