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目的对1992年至2011年期间来我院外周血染色体检查的疑诊21-三体综合征患者进行核型和临床分析。方法染色体检查采用RPMI 1640培养基培养外周血淋巴细胞,常规染色体制备,G显带,分析染色体核型3~5个,计数30个核分裂相(嵌合者计数100个核分裂相)。结果确诊21-三体综合征患儿82例,其中单纯型77例(93.9%),易位型1例(1.2%),嵌合型4例(4.9%)。男性患儿44例,女性患儿38例,男性稍多于女性(1.16∶1)。年龄1天~21岁,其中~28天29人,~1岁31人,~3岁10人,~7岁8人,7岁以上4人。父母生育年龄均超过35岁23对(28.6%),父母生育年龄均小于35岁49对(59.2%),父亲生育年龄超过35岁而母亲生育年龄小于35岁10对(12.2%),父亲生育年龄小于35岁而母亲生育年龄超过35岁0对。结论染色体检查是确诊21-三体综合征的可靠方法。基于21-三体综合征无有效治疗措施,针对21-三体综合征高风险孕妇、高龄生育夫妇等进行产前诊断才是减少唐氏综合征患儿出生的根本措施。
Objective To analyze the karyotype and clinical analysis of suspected 21-trisomy syndrome patients who came from the peripheral blood of our hospital from 1992 to 2011. Methods Chromosomal examination Peripheral blood lymphocytes were cultured in RPMI 1640 medium. The chromosomes were prepared by conventional chromosomes and analyzed by G banding. The chromosome karyotypes were analyzed from 3 to 5, and 30 mitotic phases were counted (the chimera counted 100 mitotic phases). Results Twenty-two patients with 21-trisomy were diagnosed, of which 77 (93.9%) were simple, 1 (1.2%) were translocated and 4 (4.9%) were chimeric. There were 44 males and 38 females, slightly more males than females (1.16: 1). Age 1 day to 21 years old, of which ~ 28 days to 29 people, ~ 1 year old 31 people, ~ 3 years old 10, ~ 7 years old 8 people, 7 years old 4 people. The parents ’childbearing ages were all over 23 (28.6%) of 35 years old (35.2%), the parents’ childbearing age was less than 35 years old (59.2%), the father’s childbearing age over 35 years and the mother’s childbearing age less than 35 years old 10 pairs (12.2% Age less than 35 years and mother’s childbearing age over 35 years 0 pairs. Conclusion Chromosome examination is a reliable method of diagnosing 21-trisomy syndrome. Based on 21-trisomy syndrome, no effective treatment measures, targeting 21-trisomy syndrome, high-risk pregnant women, couples and other advanced reproductive prenatal diagnosis is to reduce the birth of Down’s syndrome, the basic measures.