Prenatal diagnosis of mosaic 4p- in a fetus with trisomy 21

Prenat Diagn. 1995 Mar;15(3):274-7. doi: 10.1002/pd.1970150311.

Abstract

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p- and trisomy 21.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 4*
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics*
  • Down Syndrome / pathology
  • Female
  • Fetal Death
  • Gene Deletion*
  • Humans
  • Mosaicism*
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome