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[A case of 49 XXXXY gonadosomatic dysgenesis: clinical elements and biological consequences of polysomy X].

Authors
  • Colmant, A
  • David, T
  • Bertheas, M F
  • Fraisse, J
  • Freycon, F
Type
Published Article
Journal
Pédiatrie
Publication Date
Jan 01, 1985
Volume
40
Issue
7
Pages
565–571
Identifiers
PMID: 3831905
Source
Medline
License
Unknown

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.

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