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目的自2008年1月至2012年12月本院接诊及外院转诊的智力低下患者进行染色体检查。并对检出的278例唐氏综合征患者每年检出比例、核型、出生时母龄及母亲职业进行统计和分析。方法取外周血淋巴细胞72小时培养,常规G显带,显微镜下分析,每例计数30个分裂相,分析核型3个,异常者加倍分析。结果五年间共检出唐氏综合征患者278例,其中,单纯型266例,易位型8例,嵌合型4例。年龄最小者出生4小时,最大者21岁;男性159例,女性119例,男女比为1.34∶1。唐氏综合征患者出生时母龄最大者43岁,最小者19岁。结论进行常规产前筛查、产前检测和产前诊断,对减少患儿出生,提高我国出生人口素质有着重要意义。
Objective To conduct a chromosomal examination of patients with mental retardation referred to the hospital from January 2008 to December 2012 and referred to the hospital. And the detection of 278 cases of Down Syndrome patients detected each year the proportion, karyotype, birth mother and mother occupation statistics and analysis. Methods Peripheral blood lymphocytes were cultured for 72 hours. Conventional G banding was performed. Microscopically, 30 schizonts were counted and 3 karyotypes were analyzed. Abnormalities were double analyzed. Results 278 cases of Down syndrome were detected in five years, of which 266 were simple type, 8 were translocation type and 4 were chimerism type. The youngest was born 4 hours, the largest of 21 years; 159 males and 119 females, male to female ratio of 1.34: 1. Down’s syndrome at birth, the oldest mother of 43 years old, the youngest 19 years old. Conclusion Prenatal screening, prenatal testing and prenatal diagnosis are of great importance to reduce the birth of children and improve the quality of the population born in China.