First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe
- 1 March 1985
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 69 (3) , 272-274
- https://doi.org/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.Keywords
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