[Clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood].

Sheng-xiang Chen, Li Liu, Han-wen Wu
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Abstract

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.

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外周血罕见染色体畸变的临床特点及遗传学分析
目的:探讨外周血罕见染色体畸变的主要临床特点及遗传学分析。方法:常规方法培养外周血细胞72h,涂片,读片,进行模式分析。罕见染色体畸变的诊断标准为:每30,60,200个有丝分裂期出现1-2个异常kary型。结果:52例外周血单个染色体畸变的主要临床特征为:1.染色体畸变;自然流产;2. 性发育异常;3.生殖疾病;和4。病态和畸形。结论:罕见染色体畸变应视为染色体疾病。产前诊断是有必要的人与这种染色体畸变在其生殖活动。
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