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 cli...
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