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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Specialty: Genetics, Hematology Oncology
ICD-10: ,