Interstitial deletion of distal 13q associated with Hirschsprung's disease

J Med Genet. 1989 Feb;26(2):100-4. doi: 10.1136/jmg.26.2.100.

Abstract

Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Female
  • Hirschsprung Disease / genetics*
  • Humans
  • Infant
  • Karyotyping
  • Male