陕北地区115例唐氏综合征的细胞遗传学分析

Cytogenetic analysis of 115 Down syndrome in norther of Shanxi

目的对疑似为唐氏综合征患儿进行细胞遗传学研究,并对结果进行分析。方法外周血淋巴细胞培养,染色体核型分析。结果染色体检查196例,115例为21三体综合征核型(单纯型占89.6%,易位型占7.8%,嵌合型占2.6%),81例核型正常,确诊率为58.7%。其中1岁以内和1岁以上的确诊率分别为63.6%和89.9%。结论进行细胞遗传学检查对临床确诊21三体患儿的必要性,尤其是1岁以内的婴儿。患儿染色体异常除母亲年龄因素外,还与孕前及孕期用药及有害物质接触史、环境因素(物理、化学、生物等因素)、双亲本身为染色体异常携带者有关。因此,针对致染色体突变因素,加强优生优育宣传,避免不良因素侵袭,是减少21三体患儿出生的必要手段之一。

Objective： Down syndrome patients who was doubled in clinical was analysed by cytogenetics method and analysed the results. Methods： Patient＇s pripheral blood lymphocyte culture and karyotype analysis. Results： 196 person were been analysed by chromesome method, 115 person were been proved mongolian idiocy karyotype, including standard type occupy 89. 6 percents, transtocation type occupy 7. 8 percents, mosaic type occupy 2. 6 percents. 81 person＇s karyotype was proved normal, the rate of diagnosis is 58.7 percents. The diagnosis rate is smaller than 1 year old is 63.6 percents, and is bigger than 1 year old is 89.9 percents. Conclusion： It is very important that cytogenetics inspect of who was been doubled down syndrome＇s patients, especially the baby who was within 1 year old. There are many factors canses the patients chromosome abnormal, for example, the mother＇s age, medicine or other bad things contacted when they begin pregnant and in pregnant, environment factors, including physics, chemistry, a living thing and so on. and it is also relate to the parents who is chromosome abnormal carrier. Therefore, in accordance with the factors that to induce chromosome mutation, to strengthen well bear and well rear propaganda, to keep off unhealthy factors attack, is a important measure to decrease the Mongolian idiocy patients.