GONADAL-DYSGENESIS IN DEL(18P) SYNDROME

被引：18

作者：

TELVI, L

BERNHEIM, A

ION, A

FOUQUET, F

LEBOUC, Y

CHAUSSAIN, JL

机构：

[1] HOP ST VINCENT DE PAUL,SERV ENDOCRINOL PEDIAT,F-75674 PARIS 14,FRANCE

[2] INST GUSTAVE ROUSSY,CYTOGENET & GENET ONCOL LAB,CNRS,URA 1158,VILLEJUIF,FRANCE

[3] HOP ENFANTS ARMAND TROUSSEAU,CENT EXPLORAT FONCTIONNELLES LAB,MOLEC BIOL UNIT,PARIS,FRANCE

[4] HOP ENFANTS ARMAND TROUSSEAU,PATHOL METAB & HORMONALE DEV LAB,INSERM,U342,PARIS,FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 04期

关键词：

CHROMOSOMAL ABNORMALITIES; GONADAL DYSGENESIS; DEL(18P);

D O I：

10.1002/ajmg.1320570416

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1995 Wiley-Liss, Inc.

引用

页码：598 / 600

页数：3

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