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

Joëlle Boué, Isabelle Oberle, Roland Heilig, Jean Louis Mandel, Ann Moser, H. Moser, J. W. Larsen, Y. Dumez, A. Boué

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)272-274
Number of pages3
JournalHuman genetics
Volume69
Issue number3
DOIs
StatePublished - Mar 1985

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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