Prenatal diagnosis of X-linked ichthyosis
✍ Scribed by R. Hähnel; E. Hähnel; S.J. Wysocki; S.P. Wilkinson; A. Hockey
- Book ID
- 115823817
- Publisher
- Elsevier Science
- Year
- 1982
- Tongue
- English
- Weight
- 624 KB
- Volume
- 120
- Category
- Article
- ISSN
- 0009-8981
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Since the description of X-linked hydrocephalus by Bickers and Adams in 1949,' genetic counseling concerning this disease has benefited from the addition of prenatal ultrasound examinations, and more recently from the progress made in genetic engineering.2 We are reporting on a case in which sonogra
## Robledo et al. [1995] reported on a Sardinian family with male relatives affected with X-linked ichthyosis with normal STS levels and a normal molecular pattern. The described findings suggested ''the possibility that additional loci of mutational events may be involved in the X-linked ichthyos
## Abstract A family study was performed in order to diagnose X‐linked lymphoproliferative (XLP) disease in a fetus. The molecular genetic analysis indicated that the fetus, as well as its healthy 7‐year‐old brother, inherited XLP. Analysis of immunoglobulin subclasses from the 7‐year‐old brother s