First prenatal diagnosis of X-linked lymphoproliferative disease
β Scribed by Skare, James ;Madan, Suneeta ;Glaser, Joy ;Purtilo, David ;Nitowsky, Harold ;Pulijaal, Venkat ;Milunsky, Aubrey
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 270 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
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 supported the DNAβbased diagnosis. This is the first XLP family of African descent. Β© 1992 WileyβLiss, Inc.
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About 90-95 per cent of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with MD show great variety, from cytogenetic abnormalities to partial gene deletions to single base-pair changes. As a lethal X-linked trait, an estimated one-third of n