Autosomal Dominant Thrombocytopenia on Human Chromosome 10 (THC2)

Thrombocytopenia on human chromosome 10 (THC2) is a hereditary bleeding disorder associated with a defect in development of megakaryocytes.

Chromosome location: 10p11-12 (possibly affecting FLJ14813 and MASTL)

Inheritance: autosomal dominant

Clinical features:

(1) mild bleeding disorder

Laboratory findings:

(1) thrombocytopenia

(2) .A bone marrow biopsy shows incomplete differentiation of megakaryocytes with mature forms absent or reduced.

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