An interstitial deletion of the long arm of chromosome 13

Clin Genet. 1989 Apr;35(4):276-81. doi: 10.1111/j.1399-0004.1989.tb02943.x.

Abstract

A case of an interstitial deletion of chromosome 13, identified as 46,XY,del(13)(q22q31), is reported in a child with psychomotor retardation, prominent low-set ears, epicanthus, hypertelorism, broad nasal bridge, hypoplastic fifth fingers and abnormal dermatoglyphics. This patient is compared to others in the literature with a similar deletion.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Dermatoglyphics
  • Developmental Disabilities / genetics*
  • Ear, External / abnormalities
  • Humans
  • Hypertelorism / genetics
  • Karyotyping
  • Male