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目的自2010年1月至2011年12月本院所接诊及外院转诊的智力低下患者,进行染色体检查。并对检出的唐氏综合征患者核型及出生时母龄进行统计和分析。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。结果两年间共检出111例唐氏综合征患者,单纯型108例,易位型8例,嵌合型1例。年龄最小者1天,最大者21岁,男性63例,女性48例,男女比为1.31∶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和产前诊断,大大降低患儿出生,以提高出生人口素质。
Objective From January 2010 to December 2011 the hospital admissions and referral of the lower secondary mental patients, chromosome examination. The karyotypes of the patients with Down’s syndrome and the mother-age at birth were analyzed and statistically analyzed. 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 A total of 111 cases of Down’s syndrome were detected in two years, 108 cases of simple type, 8 cases of translocation and 1 case of chimerism. The youngest one day, the largest of 21 years old, 63 males and 48 females, male to female ratio was 1.31: 1. Down’s syndrome at birth, the oldest mother of 43 years old, the youngest 19 years old. Conclusion The routine prenatal screening and prenatal diagnosis, greatly reducing the birth of children, in order to improve the quality of the birth population.