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

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 310-313

  Faguer, Stanislas ^a,b   De Sandre Giovannoli, Annachiara ^c,d   Hemery, Michèle ^e   Lévy, Nicolas ^c,d   Lamant, Laurence ^a   Arveiler, Benoît ^f,g   Rooryck, Caroline ^f,g   Prouheze, Cathie ^a   Vigouroux, Adeline ^a   Chauveau, Dominique ^a,b   Calvas, Patrick ^a,b   Chassaing, Nicolas ^a,b  

^a TOULOUSE UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ PAUL SABATIER   (France)

^c TIMONE HOSPITAL   (France)

^d INSERM   (France)

^e Centre Hospitalier de Tarbes   (France)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

5q3 duplication; Barraquer Simons syndrome; Lipodystrophy; PPARGC1B

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C4;

ADULT; ALOPECIA; ARTICLE; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; COPY NUMBER VARIATION; DNA EXTRACTION; ECHOCARDIOGRAPHY; EPILEPSY; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GLOMERULONEPHRITIS; GLOMERULOSCLEROSIS; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; LIPID STORAGE; LIPODYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OVARY POLYCYSTIC DISEASE; PARTIAL TRISOMY; PROGRESSIVE LIPODYSTROPHY; CHROMOSOME 5; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CHROMOSOME DISORDER; COMPARATIVE GENOMIC HYBRIDIZATION; GENETICS; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; FEMALE; GENE DUPLICATION; GLOMERULONEPHRITIS; HUMANS; ICHTHYOSIS; LIPODYSTROPHY; MENTAL RETARDATION;

EID: 79955485059     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.01.005     Document Type: Article

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