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| 鲁西南地区矮小症儿童染色体核型分析 |
| Chromosome karyotype analysis on children with short stature of southwest Shandong |
| 投稿时间：2018-03-16 修订日期：2018-03-20 |
| DOI： |
| 中文关键词: 矮小症；染色体；核型分析 |
| 英文关键词: Short stature;Chromosomes;Karyotype analysis |
| 基金项目:山东省人口和计划生育委员会项目，2014年第32号 |
| 作者 | 单位 | 邮编 | | 孙海玲 | 济宁医学院附属医院 | 272029 | | 张梅 | 济宁医学院附属医院 | | | 潘慧 | 北京协和医院 | | | 汲宝兰 | 济宁医学院附属医院 | | | 张艳红 | 济宁医学院附属医院 | | | 班博* | 济宁医学院附属医院 | 272029 |
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| 中文摘要: |
| 目的：通过对矮小症儿童行外周血染色体核型检查，分析鲁西南地区矮小症的遗传病因。方法：对年龄在3-16岁的195例身材矮小儿童，培养外周血淋巴细胞行染色体核型分析。结果：在195例染色体核型中，异常染色体核型25例，占12.8%。其中染色体多态性8例，包括染色体缢痕1例、随体增加1例、异染色质区增加3例、臂间倒位2例及平衡易位1例；性染色体异常16例，包括Turner综合征14例，45,X/46,X,del(Y)核型1例，Y染色体长度变异1例；性反转1例（46,XY女性）。结论：染色体异常是引起儿童矮小症的主要原因之一，常规遗传学检查可为部分矮小儿童明确病因，为临床诊疗提供科学依据。 |
| 英文摘要: |
| Objective:To analysis the genetic causes of short stature of southwest Shandong by testing on chromosome karyotype of peripheral blood in children with short stature.Methods:By culturing peripheral blood lymphocyte to analysis chromosome karyotypes of 195 children with short stature from 3 to 16 years old. Results:Among 195 cases of children, 25 cases were detected with abnormal karyotypes,accounting for 12.8% of the total.Among them,there were 8 cases of chromosomal polymorphisms, including 1 case of chromosomal constriction,1 case of increase in satellite,3 cases of heterochromatin area,2 cases of inversion between arm and 1 cases of balanced translocation.There were 16 cases of sex chromosome abnormality, including 14 cases of Turner syndrome, 1 cases of 45X/46,X,del(Y), 1 case of Y chromosome length variation, and 1 case of sex reversal(46, XY, female) .Conclusion:Chromosome abnormality is one of the main causes of short stature.Conventional cytogenetic examination can provide a clear etiology for some children with short stature and scientific basis for clinical diagnosis and treatment. |
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