| 广州地区580例智力低下患儿的染色体核型分析 |
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| 引用本文： | 李东至,潘敏,易翠兴,胡舜妍,袁思敏,吴韶清. 广州地区580例智力低下患儿的染色体核型分析[J]. 中国优生与遗传杂志, 2009, 17(4): 42-42 |
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| 作者姓名： | 李东至 潘敏 易翠兴 胡舜妍 袁思敏 吴韶清 |
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| 作者单位： | 广州市妇婴医院细胞遗传室,510180 |
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| 基金项目： | 广州市医药卫生科技重点项目 |
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| 摘 要： | 目的回顾性分析我院遗传咨询门诊580例0-4岁怀疑存在遗传缺陷的患儿的染色体核型分析结果。方法用常规的G显带技术分析患者外周血染色体核型。结果580例患儿中染色体异常者255（38.7%）例,其中唐氏综合征195例;绝大部分（88.4%）染色体异常为数目异常,少数为结构异常。结论对于临床怀疑为遗传综合征的患儿应常规做染色体检查。
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| 关 键 词： | 染色体异常 遗传咨询 |
Chromosome abnormalities in selected children with malformations |
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| LI Dong-zhi,PAN Min,YI Cui-xin,HU Shun-yan,YUAN Si-min,WU Shao-qing. Chromosome abnormalities in selected children with malformations[J]. Chinese Journal of Birth Health & Heredity, 2009, 17(4): 42-42 |
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| Authors: | LI Dong-zhi PAN Min YI Cui-xin HU Shun-yan YUAN Si-min WU Shao-qing |
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| Affiliation: | LI Dong -zhi, PAN Min, YI Cui -xin, HU Shun -yah, YUAN Si - min, WU Shao - qing. ( Cytogenetic laboratory, Guangzhou Maternal and Neonatal Hospital, Guangzhou 510180, China) |
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| Abstract: | Objective： To examine the chromosomal composition of 580 patients at 0 -4 years old with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. Methods： Patterns of G - banding using trypsin and Giemsa （GTG） were studied using phytohemagglutinin M -stimulated lymphocytes cultured from peripheral blood. Results： Among the patients, 225 （ 38.7% ） had abnormal chromosomes, with 195 cases of Down＇s syndrome. Most （ 88.4% ） of the cases with abnormal karyotypes were numerical abnormalities, with the remaining being structural variants. Conclusions： Patients with mental retardation and/or congenital malformations should be routinely karyotyped. |
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| Keywords: | Chromosomal disorders Genetic counseling |
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