Fanconi Anemia Definition

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Fanconi Anemia:

Congenital disorder affecting all bone marrow elements, resulting in anemia, leukopenia, and thrombopenia, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous chromosome breakage is a feature of this disease along with predispostion to leukemia. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD, FANCE, FANCF, FANCG. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM# 227650, April 23, 2001)


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