重庆医学2012，Vol.41Issue(4)：330-332,3.DOI:10.3969/j.issn.1671-8348.2012.04.007
重庆地区1743例智力低下/发育迟缓儿童细胞遗传学分析及意义探讨
Cytogenetic analysis and its significance of 1 743 mental retardation /developmental delay children in Chongqing
李程 1程茜 2张伟2
作者信息
- 1. 泸州医学院附属医院儿科,四川泸州,646000
- 2. 重庆医科大学附属儿童医院,400014
- 折叠
摘要
Abstract
Objective To investigate the distribution of the abnormal karyotype in mental retardation /developmental delay (MR/DD) children of Chongqing to provide the information for diagnosis and genetic counseling. Methods The samples of the peripheral blood lymphocytes from 1743 children were prepared with routine cytogenetic methods,G-banding was employed for karyotype analysis. Results A total of 742 patients(42. 57%) were identified to have abnormalities with 20 kinds of karyotypes. Down s syndrome was the most common in euchromosome malformation, and Klinefelter syndrome in sex chromosome malformation. 80. 69% were found abnormalities in Down s syndrome group, which were coincided with clinical diagnosis and the most of 870 cases were infants;2. 08% were detected in Fragile X syndrome group and major subjects were preschool children;57. 12% in Cri-du-chat syndrome group;4. 95% in MR/DD with non-dysmorphic group,major of 626 cases were 3-5 years old,respectively. Conclusion The most abnormal karyotypes of MR/DD children are Down's,Klinefelter and Fragile X syndrome in Chongqing. It is suggested that more chromosomal information of MR/DD should be acquired,it benefits for early management and intervention of genetic diseases.关键词
细胞遗传学/儿童/智力低下/发育迟缓Key words
cytogenetics/child/mental retardation /developmental delay引用本文复制引用
李程,程茜,张伟..重庆地区1743例智力低下/发育迟缓儿童细胞遗传学分析及意义探讨[J].重庆医学,2012,41(4):330-332,3.
