Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature

Ann Genet. 2002 Oct-Dec;45(4):173-5. doi: 10.1016/s0003-3995(02)01135-8.

Abstract

A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aorta / abnormalities*
  • Chromosomes, Human, Pair 14*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Lung / abnormalities*
  • Syndrome
  • Trisomy*