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目的探讨染色体异常与临床的关系,给优生优育干预提供科学依据。方法对2007~2013年11月1 940例遗传咨询者进行外周血淋巴细胞培养,常规G显带法进行细胞核型分析,必要时加做C带或N带。结果 1 940例遗传咨询者共检出异常核型297例,异常率为15.31%。其中唐氏综合征151例,占50.84%,易位23例,占7.74%,倒位40例,占13.47%,Turner综合征13例,占4.38%,X-三体综合征3例,占1.01%,性反转综合征4例,占1.35%。异态染色体52例,占17.51%,其他染色体数目及结构异常11例,占3.70%。结论染色体畸变是儿童智力低下,先天畸形,性征发育异常,成人不孕不育、不良生育史等的重要原因之一。
Objective To investigate the relationship between chromosomal abnormalities and clinical manifestations and to provide a scientific basis for the intervention of prenatal and postnatal care. Methods Peripheral blood lymphocytes were cultured from 1 940 cases of genetic counseling from November 2007 to November 2013 in G-banding method and C-banding or N-banding as necessary. Results 1 940 cases of genetic counseling were detected in 297 cases of abnormal karyotype, the abnormal rate was 15.31%. Among them, 151 cases of Down Syndrome (50.84%), translocation in 23 cases (7.74%), inverted in 40 cases (13.47%), Turner syndrome in 13 cases (4.38%) and trisomy syndrome in 3 1.01%, sexual inversion syndrome in 4 cases, accounting for 1.35%. Across chromosomes in 52 cases, accounting for 17.51%, other chromosome number and structural abnormalities in 11 cases, accounting for 3.70%. Conclusion Chromosomal aberration is one of the important causes of mental retardation, congenital malformation, abnormal sexual development, adult infertility and poor reproductive history in children.