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Fanconi anemia complementation group J
Pathology:
- effects all bone marrow elements
- hypersensitivity to DNA-damaging agents
- chromosomal instability (increased chromosome breakage)
- defective DNA repair
Genetics:
- associated with defects in BRIP1/FANCJ
Clinical manifestations:
- cardiac, renal & limb malformations
- dermal pigmentary changes
Laboratory:
- complete blood count (CBC): anemia, leukopenia & thrombopenia
Complications:
- predisposition to the development of malignancies
General
Fanconi anemia
Database Correlations
OMIM 609054
References
OMIM :accession 609054