First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

Hum Genet. 1985;69(3):272-4. doi: 10.1007/BF00293039.

Abstract

A first trimester prenatal diagnosis of adrenoleukodystrophy has been done on chorionic villi biopsy in the pregnancy of a carrier woman. Two different approaches allowed one to determine that the male fetus was affected: the linkage analysis of DNA from chorionic villi using the highly polymorphic probe St 14 and the determination of very long chain fatty acid levels in cultured chorionic villi.

Publication types

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

MeSH terms

  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics
  • Cells, Cultured
  • Chorionic Villi / analysis
  • Chromosome Mapping*
  • DNA / genetics
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis*
  • Fatty Acids / analysis*
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Male
  • Pedigree
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*
  • X Chromosome*

Substances

  • Fatty Acids
  • Genetic Markers
  • DNA
  • hexacosanoic acid