Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant

J Med Genet. 1993 Jan;30(1):70-2. doi: 10.1136/jmg.30.1.70.

Abstract

We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 12*
  • Female
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics*
  • Heart Failure / etiology
  • Humans
  • Infant, Newborn
  • Male
  • Mosaicism*
  • Skull / abnormalities
  • Syndrome
  • Trisomy*