title: 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.
authors.affiliation: Service de Néphrologie et Immunologie Clinique, INSERM U563 (IFR 150), CHU de Toulouse, France. stanislas.faguer@inserm.fr
authors.forename: Stanislas
authors.initials: S
authors.lastname: Faguer
authors.forename: Annachiara
authors.initials: A
authors.lastname: De Sandre-Giovannoli
authors.forename: Michèle
authors.initials: M
authors.lastname: Hemery
authors.forename: Nicolas
authors.initials: N
authors.lastname: Lévy
authors.forename: Laurence
authors.initials: L
authors.lastname: Lamant
authors.forename: Benoît
authors.initials: B
authors.lastname: Arveiler
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.forename: Cathie
authors.initials: C
authors.lastname: Prouheze
authors.forename: Adeline
authors.initials: A
authors.lastname: Vigouroux
authors.forename: Dominique
authors.initials: D
authors.lastname: Chauveau
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000473:pathology; D005260:Female; D020440:Gene Duplication; D005921:Glomerulonephritis / Q000473:pathology; D006801:Humans; D007057:Ichthyosis / Q000473:pathology; D008607:Intellectual Disability / Q000473:pathology; D008060:Lipodystrophy / Q000473:pathology