Random X chromosome inactivation in a female with a variant of Wiskott-Aldrich syndrome
β Scribed by SUSAN J. RDSSELL; PERRY D. NISEN
- Book ID
- 114714090
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 229 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0007-1048
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We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. Both small-sized and normal-sized platelets
Lymphocytes from patients with Wiskott-Aldrich syndrome (WAS) were studied 1) with prometaphase G banding to search for minor chromosome anomalies and 2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to hav