Carrier detection in the Wiskott Aldrich syndrome.

Wiskott-Aldrich Syndrome (WAS): A Case Report in Mauritius and Review

Wiskott-Aldrich is an X-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. We report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. From the family pedigree, there were two suspected cases t...

Carrier Detection in Wiskott - Aldrich Syndrome : Combined Use of M 27 P for X - Inactivation Studies and As a Linked Probe

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder with no clinical or immunologic abnormalities in carrier famales. The defective gene has been localized to proximal Xp. Carrier females have nonrandom use of the X chromosome in granulocytes, lymphocytes, and monocytes. We have used the probe M27p. which detects both a variable number tandem repeat polymorphism and methylat...

Blood Mononuclear Cells Syndrome Protein Expression in Peripheral Cytometric Analysis of Wiskott-Aldrich Wiskott-Aldrich Syndrome by Flow Determination of Carrier Status for the

Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe.

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder with no clinical or immunologic abnormalities in carrier females. The defective gene has been localized to proximal Xp. Carrier females have nonrandom use of the X chromosome in granulocytes, lymphocytes, and monocytes. We have used the probe M27 beta, which detects both a variable number tandem repeat polymorphism and meth...

Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection.

A family in which two male siblings were affected with Wiskott-Aldrich syndrome (WAS) was studied using G-6-PD isoenzymes as an X-linked marker in order to investigate the nature of cellular abnormalities. Isolated peripheral blood cell types from the doubly heterozygous mother of the affected males seemingly failed to express the G-6-PD allele in cis position with the WAS allele while her cult...