Fanconi anemia complementation group J
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Pathology
- effects all bone marrow elements
- hypersensitivity to DNA-damaging agents
- chromosomal instability (increased chromosome breakage)
- defective DNA repair
Genetics
Clinical manifestations
- cardiac, renal & limb malformations
- dermal pigmentary changes
Laboratory
- complete blood count (CBC): anemia, leukopenia & thrombopenia
Complications
- predisposition to the development of malignancies