Gonadal Dysgenesis in Del(18p) Syndrome

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1995 Jul 17

PMID 7573136

Citations 5

Authors

L Telvi

A Bernheim

A Ion

F Fouquet

Y Le Bouc

J L Chaussain

Affiliations

Soon will be listed here.

Abstract

We report on a girl with syndromal gonadal dysgenesis and a de novo del(18p). Genetic factors controlling gonadal development are located not only on the X chromosome, but also on autosomes. The present case suggests that one of these genes is situated on 18p. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

Citing Articles

Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Schmidt B, Udink ten Cate F, Weiss M, Koehler U Eur J Pediatr. 2012; 171(7):1047-53.

PMID: 22302461 DOI: 10.1007/s00431-012-1682-z.

Familial deletion 18p syndrome: case report.

Maranda B, Lemieux N, Lemyre E BMC Med Genet. 2006; 7:60.

PMID: 16842614 PMC: 1540411. DOI: 10.1186/1471-2350-7-60.

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Horsley S, Knight S, Nixon J, Huson S, Fitchett M, Boone R J Med Genet. 1998; 35(9):722-6.

PMID: 9733029 PMC: 1051423. DOI: 10.1136/jmg.35.9.722.

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Telvi L, Ion A, Carel J, Desguerre I, Piraud M, Boutin A J Med Genet. 1996; 33(9):767-71.

PMID: 8880579 PMC: 1050733. DOI: 10.1136/jmg.33.9.767.

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

Ion A, Telvi L, Chaussain J, Galacteros F, Valayer J, Fellous M Am J Hum Genet. 1996; 58(6):1185-91.

PMID: 8651295 PMC: 1915046.