Gonadal dysgenesis in del(18p) syndrome

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)...

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Veröffentlicht in:	American Journal of Medical Genetics 1995-07, Vol.57 (4), p.598-600
Hauptverfasser:	Telvi, Louise, Bernheim, Alain, Ion, Alexandra, Fouquet, Françoise, Bouc, Yves Le, Chaussain, Jean-Louis
Format:	Artikel
Sprache:	eng
Schlagworte:	ANEUPLOIDY BANDING TECHNIQUES Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES case reports Child, Preschool CHROMOSOMAL ABERRATIONS chromosomal abnormalities chromosome 18 Chromosome aberrations Chromosomes, Human, Pair 18 CONGENITAL MALFORMATIONS del(18p) deletion DNA HYBRIDIZATION Female FLUORESCENCE Gene Deletion GENES GENETIC MAPPING gonadal dysgenesis Gonadal Dysgenesis - genetics Gonadal Dysgenesis - pathology HETEROCHROMOSOMES HUMAN CHROMOSOME 18 HUMAN X CHROMOSOME Humans In Situ Hybridization, Fluorescence KARYOTYPE Karyotyping man Medical genetics Medical sciences PATIENTS PHENOTYPE Syndrome UROGENITAL SYSTEM DISEASES
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Zusammenfassung:	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.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320570416