外周血罕见染色体畸变的临床特征与基因分析
[Clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood].
作者信息
Chen Sheng-xiang, Liu Li, Wu Han-wen
机构信息
Hunan Reproduction Engineering Research Institute, Xiangya School of Medicine, Central South University, Changsha 410008, China.
出版信息
Hunan Yi Ke Da Xue Xue Bao. 2003 Aug;28(4):375-8.
OBJECTIVE
To investigate the main clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood.
METHODS
Peripheral blood cells were cultured for 72 hours with routine method and slids performed, and then the slide was read and mode analysis was carried out. The diagnostic standard of rare chromosomal aberation was: 1-2 abnormal kary types were found in every 30, 60, 200 mitotic phass.
RESULTS
The main clinical characteristics of 52 cases of individual chromosomal aberation in peripheral blood included: 1. spontaneous abortion; 2. abnormal sex development; 3. reproduction diseases; and 4. morbid and deformity.
CONCLUSION
Rare chromosomal aberation should be regarded as chromosomal diseases. Prenatal diagnosis is necessary for people with such chromosomal aberation in their reproductive actions.
目的
探讨外周血罕见染色体畸变的主要临床特征及基因分析。
方法
采用常规方法对外周血细胞进行72小时培养并制片，然后阅片并进行核型分析。罕见染色体畸变的诊断标准为：每30、60、200个有丝分裂相中发现1 - 2个异常核型。
结果
52例外周血单个染色体畸变的主要临床特征包括：1. 自然流产；2. 性发育异常；3. 生殖疾病；4. 疾病与畸形。
结论
罕见染色体畸变应被视为染色体疾病。对于生殖行为中有此类染色体畸变的人群，产前诊断是必要的。
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