Rola badań genetycznych w diagnostyce anemii aplastycznej u dziewczynki z wielowadziem i niedoborem wzrostu

We present a girl with short stature, hypoplastic both thumbs, congenital heart defect (after surgery), which presented leukopenia. The clinical suspicion of Fanconi anemia was confirmed by cytogenetic test for increased chromosomal breakage in the presence of mitomycin C.