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

作者：Faguer Stanislas^*; De Sandre Giovannoli Annachiara; Hemery Michele; Levy Nicolas; Lamant Laurence; Arveiler Benoit; Rooryck Caroline; Prouheze Cathie; Vigouroux Adeline; Chauveau Dominique; Calvas Patrick; Chassaing Nicolas

来源：European Journal of Medical Genetics, 2011, 54(3): 310-313.

DOI：10.1016/j.ejmg.2011.01.005

• Barraquer-Simons syndrome
• Lipodystrophy
• 5q3 duplication
• PPARGC1B

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.

• 出版日期2011-6