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
The prenatal diagnosis of X-linked adrenoleukodystrophy
β Scribed by Ann B. Moser; Hugo W. Moser
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 129 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
X-linked adrenoleukodystrophy (X-ALD) is due to an impairment in the peroxisomal -oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and ch
## Abstract A family study was performed in order to diagnose Xβlinked lymphoproliferative (XLP) disease in a fetus. The molecular genetic analysis indicated that the fetus, as well as its healthy 7βyearβold brother, inherited XLP. Analysis of immunoglobulin subclasses from the 7βyearβold brother s
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
Prenatal diagnosis of adrenoleukodystrophy (ALD) was performed by means of genetic and biochemical analysis using chorionic villi and amniocytes. The mother was a carrier of an exonic point mutation in the ALD protein gene (2154 C to T) which resulted in the premature formation of a termination codo