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

How to cite

1.
Karaman A, Tos T. De Novo Three-Way Chromosome Translocation [46,XX,t(1;20;4) (p32;q12;q32)] in a Patient with Developmental Delay: A Case Report. Turk J Pediatr Dis [Internet]. 2013 Jun. 1 [cited 2025 Aug. 23];7:7-10. Available from: https://turkjpediatrdis.org/article/view/1177