Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

作     者：Sharmila Thillainathan Nirmala D.Sirisena Kariyawasam W.J.C.Kariyawasam Rohan W.Jayasekara Vajira H.W.Dissanayake 

作者机构：Human Genetics UnitFaculty of MedicineUniversity of ColomboSri Lanka Asiri Center for Genomic and Regenerative MedicineAsiri Surgical HospitalColomboSri Lanka 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2015年第11卷第4期

页      面：374-379页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：aneuploidy chromosome aberrations cytogenetic analysis karyotypes 

摘      要：Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.