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 

机构地区：[1]Human Genetics Unit,Faculty of Medicine,University of Colombo,Sri Lanka [2]Asiri Center for Genomic and Regenerative Medicine,Asiri Surgical Hospital,Colombo,Sri Lanka

出　　处：《World Journal of Pediatrics》2015年第4期374-379,共6页世界儿科杂志（英文版）

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.

关 键 词：ANEUPLOIDY chromosome aberrations cytogenetic analysis KARYOTYPES 

分 类 号：R72[医药卫生—儿科]