Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue

Prenat Diagn. 1997 Aug;17(8):780-3. doi: 10.1002/(sici)1097-0223(199708)17:8<780::aid-pd133>3.0.co;2-z.

Abstract

We present a prenatal predictive diagnosis of Prader-Willi syndrome arising as a result of maternal heterodisomy for chromosome 15. The diagnosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosomally normal follow-up amninocentesis. Molecular studies on DNA extracted from cultured amniocytes showed no evidence of a paternal allele at two widely separated loci and this was taken as evidence of maternal disomy predictive of Prader-Willi syndrome in the fetus.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Chorionic Villi Sampling
  • Chromosomes, Human, Pair 15*
  • DNA / analysis
  • Female
  • Gestational Age
  • Humans
  • Mosaicism
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics*
  • Pregnancy
  • Prenatal Diagnosis*
  • Prospective Studies
  • Trisomy*

Substances

  • DNA