RANDOM X-CHROMOSOME INACTIVATION IN A FEMALE WITH A VARIANT OF WISKOTT-ALDRICH SYNDROME

A 15-month-old female presented with eczema, thrombocytopenia, recurre nt infections and failure to thrive. She had low serum IgM and IgG sub classes and an abnormal lymphocyte proliferative response to periodate in vitro. Molecular X chromosome inactivation analysis, using the pol ymorphic HUMARA DNA probe, showed that the infant has random X chromos ome inactivation, We conclude that she has an atypical form of Wiskott -Aldrich syndrome which may be inherited in an autosomal recessive man ner.