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

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. 
DOI: 10.1016/j.ejmg.2011.01.005

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Cite this paper

@article{Faguer2011A1M, title={A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.}, author={Stanislas Faguer and Annachiara de Sandre-Giovannoli and Mich{\`e}le Hemery and Nicolas L{\'e}vy and Laurence Lamant and Beno{\^i}t Arveiler and Caroline Rooryck and Cathie Prouheze and Adeline Vigouroux and Dominique Chauveau and Patrick Calvas and Nicolas Chassaing}, journal={European journal of medical genetics}, year={2011}, volume={54 3}, pages={310-3} }