Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q

J Med Genet. 1988 Aug;25(8):570-2. doi: 10.1136/jmg.25.8.570.

Abstract

A six month old girl with developmental delay and dysmorphic features was found to have a translocation involving 2p and 5q as well as a deletion of band 5q21.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 5
  • Coloboma / genetics
  • Developmental Disabilities / genetics
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Translocation, Genetic*