Prenatal diagnosis of del(15)(q11q13)

Prenat Diagn. 1990 Jun;10(6):405-11. doi: 10.1002/pd.1970100608.

Abstract

A case of del(15)(q11q13) was detected in amniotic fluid cell cultures and confirmed by cordocentesis in a 27-year-old woman with a low maternal serum alpha-fetoprotein level. The fetus was shown to have a short femoral length on ultrasonography. This structural chromosome abnormality associated with the prenatal ultrasonographic findings and the morphological characteristics visualized after termination of pregnancy strongly suggest Prader-Willi syndrome.

MeSH terms

  • Adult
  • Amniocentesis
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Female
  • Humans
  • Karyotyping
  • Prader-Willi Syndrome / diagnosis*
  • Pregnancy
  • Ultrasonography
  • alpha-Fetoproteins / analysis

Substances

  • alpha-Fetoproteins