Abstract
Complex chromosome rearrangements (CCRs) involve more than two breakpoints on two or more chromosomes are uncommon occurrences. We report a female with developmental delay with a complex three-way balanced translocation [46,XX,t(1;4;20)(p32;q32;q12)] identified by karyotyping.This paper is the first report of reciprocal translocation involving 1p, 4q and 20q associated with the developmental delay. The developmental delay may be due to the rearrangement of genetic material at these breakpoints and this incident may cause developmental delay.
Keywords: Chromosomal translocation, Developmental delay
Copyright and license
Copyright © 2013 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.