Duplication (12p) syndrome--a family

Ir Med J. 1995 May-Jun;88(3):106.

Abstract

We report the following cases of Duplication (12p) Syndrome. This is a rare entity which may present with developmental delay, dysmorphic features and malformations.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations / diagnosis*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 12*
  • Facial Bones / abnormalities
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Multigene Family*
  • Syndrome