Gonadal dysgenesis in del(18p) syndrome

Am J Med Genet. 1995 Jul 17;57(4):598-600. doi: 10.1002/ajmg.1320570416.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 18*
  • Female
  • Gene Deletion*
  • Gonadal Dysgenesis / genetics*
  • Gonadal Dysgenesis / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Syndrome