Duplication 1q as primary and 3q in t(3;13) as secondary aberration in Fanconi anemia: Implications and literature review

Fanconi anemia (FA) is a genetic disorder of chromosomal instability. One of the routine methods of confirmation for FA includes chromosome breakage analysis, using crosslink-inducing agents. Bone marrow karyotyping at diagnosis and further follow-up will aid in detecting aberrations. If present, they might be indicative of a possible karyotype evolution, leading to poor prognosis. We report a FA patient with two distinct karyotypes: 46,XY,dup(1)(q21q31) in the first diagnostic sample and 46,XY,dup(1)(q21q31),der(13)t(3;13)(?q26;p12) in the second, after a span of two years. We discuss the possible karyotypic evolution, the implications of chromosome 13 involvement and regions/genes on chromosomes 1q and 3q in FA. The importance of periodic examination of bone marrow in these patients, for detection of cryptic aberrations which might lead them to MDS/AML, is also discussed.