Trisomy 14 mosaicism: a case report and review of the literature

J Perinatol. 2004 Feb;24(2):121-3. doi: 10.1038/


Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management. Trisomy 14 mosaicism should be suspected in individuals who have the features described herein, thus prompting cytogenetic evaluation of blood, and possibly other tissues for diagnosis.

Publication types

  • Review

MeSH terms

  • Chromosomes, Human, Pair 14*
  • Female
  • Humans
  • Infant, Newborn
  • Mosaicism*
  • Trisomy / diagnosis*