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目的对2008年至2010年我院377例患者外周血染色体核型进行分析,探讨染色体检查在出生缺陷、流产、不育及孕前检查的意义。方法常规外周血淋巴细胞培养方法制备染色体标本,G带技术进行细胞遗传学分析。结果检出异常核型20例,异常率占5.3%,异常核型涉及3、9、10、13、14、15、21、X及Y共9条染色体。结论新生儿异常面容、儿童发育迟缓、反复流产、不孕不育患者中染色体异常率高。应对高危人群进行染色体检查,重视孕前遗传优生检查,避免遗传病患儿出生。
Objective To analyze the chromosomal karyotypes of 377 patients in our hospital from 2008 to 2010 and discuss the significance of chromosomal abnormalities in birth defects, abortion, infertility and preconception. Methods Chromosome specimens were prepared by routine peripheral blood lymphocyte culture method. Cytogenetic analysis was performed using G band technique. Results There were 20 abnormal karyotypes detected, accounting for 5.3%. The abnormal karyotypes involved 3, 9, 10, 13, 14, 15, 21, and 9 X and Y chromosomes. Conclusions Abnormal face of newborns, child growth retardation, repeated abortion, infertility patients with high rates of chromosomal abnormalities. Chromosome examination should be carried out for high-risk groups, prenatal genetic eugenics should be emphasized to prevent the birth of children with genetic diseases.