| 小儿先天异常的细胞遗传学分析 |
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| 引用本文： | 陈银涛,钟慧军,党洁,彭亮,霍正浩,焦海燕,赵巍,徐方,墙克信.小儿先天异常的细胞遗传学分析[J].宁夏医学杂志,2004,26(1):10-12. |
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| 作者姓名： | 陈银涛 钟慧军 党洁 彭亮 霍正浩 焦海燕 赵巍 徐方 墙克信 |
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| 作者单位： | 宁夏医学院,宁夏 银川 750004 |
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| 摘 要： | 目的 对临床怀疑染色体病或需排除染色体畸变的患儿进行细胞遗传学染色体检查，以探讨小儿先天异常与染色体异常之间的关系。方法 对小儿先天异常就诊者取外周血，37℃培养，常规制片，G显带，行染色体分析。结果 共检查299例小儿先天异常患者的染色体，其中因智力低下就诊者225例。共发现异常核型129例，占43．14％，其中常染色体数目异常102例，嵌合体4例，常染色体结构异常10例，性染色体数目异常4例，染色体与社会性别不符7例。结论 染色体畸变是小儿先天异常特别是小儿智力低下的主要原因之一。
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| 关 键 词： | 先天性缺陷 染色体 核型分析 |
| 文章编号： | 1001-5949(2004)01-0010-03 |
| 修稿时间： | 2003年5月19日 |
The cytogenetic karyotype analysis of 299 congenitally abnormal patients |
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| CHEN Yin-tao,ZHONG Hui-jun,DANG Jie,et al..The cytogenetic karyotype analysis of 299 congenitally abnormal patients[J].Ningxia Medical Journal,2004,26(1):10-12. |
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| Authors: | CHEN Yin-tao ZHONG Hui-jun DANG Jie |
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| Abstract: | Objective To study the relationship between congenitally abnormal and their chromosomal disorder.Methods Peripheral blook samples from 299 patients of congenital abnormalities were cultured,processed and banded according to the routine method.Karyotypes of each patient were analyzed.Results 129 cases abnormal karyotypes(43.14%) were inentified in 225 patients.Among these 129 cases,102 cases were numerical aberration,10 cases were autonomic structural aberration,4 cases were mosaic and 7 cases were carrying sex chromosomal aberration.Conclusion Our work suggest that chromosomal aberration plays an important role in leading to congenital abnormality,especially the mental retardation. |
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| Keywords: | Congenital defects Chromosomes Karyotyping |
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