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

Journal Article · Thu Sep 01 00:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133765

Telvi, L; Ion, R ^[1]; Bernheim, A ^[2]

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1. Hopital Saint Vincent de Paul, Paris (France)
2. CNRS, Villejif (France); and others

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.

• OSTI ID: 133765
• Report Number(s): CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0497
• Journal Information: American Journal of Human Genetics, Vol. 55, 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

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOMES
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HUMAN X CHROMOSOME
PATIENTS
CONGENITAL MALFORMATIONS
UROGENITAL SYSTEM DISEASES
GENES
GONADS