title: Gonadal dysgenesis in del(18p) syndrome.
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.
authors.affiliation: Laboratoire de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Telvi
authors.forename: A
authors.initials: A
authors.lastname: Bernheim
authors.forename: A
authors.initials: A
authors.lastname: Ion
authors.forename: F
authors.initials: F
authors.lastname: Fouquet
authors.forename: Y
authors.initials: Y
authors.lastname: Le Bouc
authors.forename: J L
authors.initials: JL
authors.lastname: Chaussain
mesh_terms: D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D005260:Female; D017353:Gene Deletion; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D013577:Syndrome