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A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.

Research paper by Stanislas S Faguer, Annachiara A De Sandre-Giovannoli, Michèle M Hemery, Nicolas N Lévy, Laurence L Lamant, Benoît B Arveiler, Caroline C Rooryck, Cathie C Prouheze, Adeline A Vigouroux, Dominique D Chauveau, Patrick P Calvas, Nicolas N Chassaing

Indexed on: 01 Feb '11Published on: 01 Feb '11Published in: European Journal of Medical Genetics



Abstract

We report here a 44 years-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichtyosis and glomerulonephritis, carrying a 10 Mb duplication of the chromosome 5q31.3-5q32.1 region detected by array-CGH.