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

doi:10.1007/BF00293039

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

Kennedy Krieger Institute

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	272-274
Number of pages	3
Journal	Human genetics
Volume	69
Issue number	3
DOIs	https://doi.org/10.1007/BF00293039
State	Published - Mar 1985

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1007/BF00293039

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First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. / Boué, Joëlle; Oberle, Isabelle; Heilig, Roland; Mandel, Jean Louis; Moser, Ann; Moser, H.; Larsen, J. W.; Dumez, Y.; Boué, A.

In: Human genetics, Vol. 69, No. 3, 03.1985, p. 272-274.

Research output: Contribution to journal › Article › peer-review

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AU - Boué, Joëlle

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AU - Heilig, Roland

AU - Mandel, Jean Louis

AU - Moser, Ann

AU - Moser, H.

AU - Larsen, J. W.

AU - Dumez, Y.

AU - Boué, A.

PY - 1985/3

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AB - 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.

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

Abstract

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