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Title: Gonadal dysgenesis, Turner syndrome with 46,XX,del(18p)3

The authors report a case of a female infant with gonadal dysgenesis, clinical features of Turner syndrome and a de novo del(18p). The factors controlling gonadal dysgenesis and Turner syndrome are unknown to date. The genes involved could be located not only on X chromosome but also on autosomes. The present case suggests that one of these genes is situated on the short arm of chromosome 18. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.
Authors:
;  [1] ;  [2]
  1. Hopital Saint Vincent de Paul, Paris (France)
  2. CNRS, Villejif (France) [and others
Publication Date:
OSTI Identifier:
133765
Report Number(s):
CONF-941009--
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0497
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOMES; CHROMOSOMAL ABERRATIONS; GENETIC MAPPING; HUMAN X CHROMOSOME; PATIENTS; CONGENITAL MALFORMATIONS; UROGENITAL SYSTEM DISEASES; GENES; GONADS