Random X chromosome inactivation in a female with a variant of Wiskott‐Aldrich syndrome
- 1 May 1995
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 90 (1), 210-212
- https://doi.org/10.1111/j.1365-2141.1995.tb03403.x
Abstract
A 15-month-old female presented with eczema, thrombocytopenia, recurrent infections and failure to thrive. She had low serum IgM and IgG subclasses and an abnormal lymphocyte proliferative response to periodate in vitro. Molecular X chromosome inactivation analysis, using the polymorphic HUMARA DNA probe, showed that the infant has random X chromosome inactivation. We conclude that she has an atypical form of Wiskott-Aldrich syndrome which may be inherited in an autosomal recessive manner.This publication has 4 references indexed in Scilit:
- Langerhans'-Cell Histiocytosis (Histiocytosis X) -- A Clonal Proliferative DiseaseThe New England Journal of Medicine, 1994
- Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: long-term follow-up of 62 casesBlood, 1993
- Atypical Wiskott-Aldrich syndrome in a girlBlood, 1992
- The Molecular Basis of Severe Hemophilia B in a GirlThe New England Journal of Medicine, 1986