The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans. Biomed Res Int. 2019;2019:9797104 Authors: Paththinige CS, Sirisena ND, Kariyawasam UGIU, Dissanayake VHW Abstract Translocations are the most common type of structural chromosomal abnormalities. Unbalanced translocations are usually found in children who present with congenital abnormalities, developmental delay, or intellectual disability. Balanced translocations are usually found in adults who frequently present with reproductive failure; either subfertility, or recurrent pregnancy loss. Herein, we report the spectrum and frequency of translocations in a Sri Lankan cohort. A database of patients undergoing cytogenetic testing was maintained prospectively from January 2007 to December 2016 and analyzed, retrospectively. A total of 15,864 individuals were tested. Among them, 277 (1.7%) had translocations. There were 142 (51.3%) unbalanced translocations and 135 (48.7%) balanced translocations. Majority (160; 57.8%) were Robertsonian translocations. There were 145 (52.3%) children and adolescents aged less than 18 years with translocations, and 142 (97.9%) were unbalanced translocations. Majority [138 (95.2%)] were referred due to congenital abnormalities, developmental delay, or intellectual disability, and 91 were children with translocation Down syndrome. All adults aged 18 years or above (132) had balanced translocations. Subfertility and recurre...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research