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

Authors :: Faguer S
De Sandre-Giovannoli A
Hemery M
Lévy N
Lamant L
Arveiler B
Rooryck C
Prouheze C
Vigouroux A
Chauveau D
Calvas P
Chassaing N
Source :: European journal of medical genetics [Eur J Med Genet] 2011 May-Jun; Vol. 54 (3), pp. 310-3. Date of Electronic Publication: 2011 Jan 27.
Publication Year :: 2011
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.<br /> (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

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

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