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| 1 | 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显示文摘目的了解重庆地区智力低下/发育迟缓儿童染色体异常的主要分布情况,为疾病的病因诊断、遗传咨询提供理论依据。方法对1 743例儿童无菌外周血进行常规接种、培养、制片及G带分析。结果 1 743例中检出基因异常共742例,异常检出率42.57%,异常核型共20种,常染色体异常以21-三体综合征为主,性染色体异常以Klinefelter综合征为主。按送检病因分类染色体检出异常相符情况为21-三体综合征80.69%,送检年龄集中在小于1岁组;脆性X综合征2.08%,送检年龄主要是3~5岁儿童;猫叫综合征57.12%(4/7);表型不易识别智力低下/发育迟缓4.95%,送检儿童年龄大部分为3~5岁。结论重庆地区智力低下/发育迟缓儿童最常见染色体异常为Down′s综合征、Kilinefelter综合征、脆性X综合征。临床上应较全面获取智力低下/发育迟缓儿童的染色体信息,以利于疾病的早期干预和管理。 | 李程 程茜 张伟 | 2012 | 重庆医学2012，41，4： | 8 |
| 2 | Primed In Situ Labeling Technique for Subtelomeric Rearrangements in 70 Children with Idiopathic Mental Retardation显示文摘Subtelomeric rearrangements contribute to idiopathic mental retardation(MR),but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis.The primed in situ labeling(PRINS)technique,using an oligonucleotide primer complementary to the telemetric repeat sequences(TTAGGG),can identify chromosome telomeric abnormality(deletion)in idiopathic MR children.In this study,seventy children with idiopathic MR were enrolled and subjected to PRINS.The results showed normal karyotype in all the children,subtelomeric rearrangements(1q del and 4q del)in 2 cases,which was confirmed by fluorescence in situ hybridization(FISH).It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening. | 田虹 余慧 付四清 金润铭 | 2011 | Journal of Huazhong University of Science and Technology(Medical Sciences)2011，31，6： | 0 |
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