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

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.
Source: Acta Haematologica Polonica - Category: Hematology Source Type: research