Partial trisomy 20q in a newborn with dextrocardia

Genet Couns. 2002;13(4):433-40.

Abstract

A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 20*
  • Dextrocardia / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotyping
  • Trisomy*