Amniocentesis was performed at 17 weeks' gestation on a 39-year-old woman at risk of being a carrier for X-linked adrenoleukodystrophy (X-ALD). Her first son had been affected with childhood cerebral X-ALD and had died at the age of nine years. DNA analysis had not been performed nor was any materia
X-linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect
β Scribed by R. J. A. Wanders; C. W. T. van Roermund; W. Lageweg; B. S. Jakobs; R. B. H. Schutgens; A. A. Nijenhuis; J. M. Tager
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 917 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0141-8955
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We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with
Our objective was to review the Australasian experience of X-linked adrenoleukodystrophy (ALD), to compare the spectrum of disease seen in Australasia with previously published data from elsewhere, and to assess the reliability of carrier testing. Study design was a retrospective review of records c