title: [A case of 49 XXXXY gonadosomatic dysgenesis: clinical elements and biological consequences of polysomy X].
abstract: Discovery of 49 XXXXY syndrome in a six years young boy allows description of the main clinical characteristics of this disease: hypotrophy, facial anomalies, hypogenitalism, delayed speech development and oligophrenia. Radio-cubital synostosis is quite specific in this syndrome. The hypothesis of a correlation between clinical anomalies and excess of genes induced by polysomia has been suggested. We give results of five X-linked enzymatic activities: steroid sulfatase (STS) (located on the probably noninactivated segment), Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT), Glucose 6 Phosphate Déshydrogenase (G6PD), Phospho Glycerate Kinase (PGK), Alpha Galactosidase A (Alpha GAL A). Only STS activity seems to be significatively increased.
mesh_terms: D002648:Child; D002869:Chromosome Aberrations / Q000201:enzymology; D025063:Chromosome Disorders; D006059:Gonadal Dysgenesis / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014960:X Chromosome
vernacular_title: A propos d'un cas de dysgénésie gonadosomatique 49 XXXXY: eléments cliniques et conséquences biologiques de la polysomie X.