The phenotypic spectrum of trisomy 2: report of two new cases

Clin Dysmorphol. 2009 Oct;18(4):201-4. doi: 10.1097/MCD.0b013e32832d0639.

Abstract

We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosomes, Human / genetics
  • Female
  • Fetus / abnormalities
  • Humans
  • Infant, Newborn
  • Phenotype
  • Pregnancy
  • Trisomy / pathology*