Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection

Prenat Diagn. 1990 Sep;10(9):569-74. doi: 10.1002/pd.1970100904.

Abstract

We report three cases of amniocentesis in which mosaicism for trisomy 12 was detected in two or more independent cultures. The parents elected to terminate the pregnancy in all three cases. Follow-up studies in two of the cases confirmed the mosaicism in fetal tissues (in subcutaneous tissue in one case; in fetal lung in the other), but not in blood. No fetal anomalies were evident by ultrasound or at autopsy. These results along with other reported cases demonstrate the difficulty in counselling for mosaic trisomy 12.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Amniocentesis
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 12*
  • Female
  • Humans
  • Mosaicism*
  • Pregnancy
  • Trisomy*