BernheimV1, Istex, Corpus, bibRecord, 000426

Gonadal dysgenesis in del(18p) syndrome

Identifieur interne : 000426 ( Istex/Corpus ); précédent : 000425; suivant : 000427

Gonadal dysgenesis in del(18p) syndrome

Auteurs : Louise Telvi ; Alain Bernheim ; Alexandra Ion ; Françoise Fouquet ; Yves Le Bouc ; Jean-Louis Chaussain

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1995-07-17.

RBID : ISTEX:3AC5879288E74E9202349AAF0529F1ACA4320C19

English descriptors

Teeft :
- Abnormality, Chromosome, Deletion, Dutrillaux, Dysgenesis, Genet, Genetic factors, Gonadal, Gonadal dysgenesis, Grouchy, Hybridization, Laboratoire, Rtbg, Rtbg techniques, Schinzel, Streak gonads, Syndrome, Turleau.

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. © 1995 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/3AC5879288E74E9202349AAF0529F1ACA4320C19/fulltext/pdf

DOI: 10.1002/ajmg.1320570416

Links to Exploration step

ISTEX:3AC5879288E74E9202349AAF0529F1ACA4320C19

Le document en format XML

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	Serveur d'exploration Hippolyte Bernheim
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Serveur d'exploration Hippolyte Bernheim

Gonadal dysgenesis in del(18p) syndrome

Gonadal dysgenesis in del(18p) syndrome

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