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

Stanislas Faguer; Annachiara De Sandre-Giovannoli; Michèle Hemery; Nicolas Lévy; Laurence Lamant; Benoît Arveiler; Caroline Rooryck; Cathie Prouheze; Adeline Vigouroux; Dominique Chauveau; Patrick Calvas; Nicolas Chassaing

doi:10.1016/j.ejmg.2011.01.005

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

Eur J Med Genet. 2011 May-Jun;54(3):310-3. doi: 10.1016/j.ejmg.2011.01.005. Epub 2011 Jan 27.

Authors

Stanislas Faguer¹, Annachiara De Sandre-Giovannoli, Michèle Hemery, Nicolas Lévy, Laurence Lamant, Benoît Arveiler, Caroline Rooryck, Cathie Prouheze, Adeline Vigouroux, Dominique Chauveau, Patrick Calvas, Nicolas Chassaing

Affiliation

¹ Service de Néphrologie et Immunologie Clinique, INSERM U563 (IFR 150), CHU de Toulouse, France. stanislas.faguer@inserm.fr

PMID: 21276880
DOI: 10.1016/j.ejmg.2011.01.005

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Adult
Chromosome Aberrations*
Chromosome Banding
Chromosome Disorders / genetics*
Chromosome Disorders / pathology
Chromosomes, Human, Pair 5 / genetics*
Comparative Genomic Hybridization
Epilepsy / pathology
Female
Gene Duplication
Glomerulonephritis / pathology
Humans
Ichthyosis / pathology
Intellectual Disability / pathology
Lipodystrophy / pathology