Fanconi anemia (FA) is a recessive disease presents with growth retardation, congenital malformations, bone marrow failure, high risk of neoplasia, and premature aging. Genomic instability causing chromosomal breakage, cell cycle disturbance, and increased somatic mutation rates are some molecular causes of the disease. Along with chromosomal fragility, hypersensitivity to DNA cross-link drugs is seen. Patients will have a progressive pancytopenia and macrocytosis. Deformities include, café au lait spots, microcephaly, micropthalmia, short staure, horseshoe kidneys and ABSENT thumb.
Reference:
Genome Dyn.Fanconi anemia: causes and consequences of genetic instability. Kalb R, Neveling K, Nanda I, Schindler D, Hoehn H.
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