A rare case of de novo distal 19q trisomy prenatally diagnosed

Prenat Diagn. 2004 Oct;24(10):822-7. doi: 10.1002/pd.995.

Abstract

We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Amniocentesis
  • Amniotic Fluid / cytology
  • Chromosomes, Human, Pair 19* / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • Cytogenetic Analysis
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis*
  • Translocation, Genetic / genetics*
  • Trisomy / diagnosis*