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本文报道了我室自 1983年 1月至 1999年 7月 ,共收集遗传咨询门诊及外院转诊先天愚型患者 78例 ,经外周血染色体G显带分析 ,结果三体型 69例占 88 46 % ;易位型 7例占 8 97% ;嵌合型 2例占 2 5 6%。患儿均呈典型的先天愚型特殊面容和体征 ,部分患儿伴有先天性心脏病 ,这些患儿染色体异常与母亲年龄、孕期用药、环境因素 ,父母本身为染色体异常携带者等有关。因此 ,预防此患儿的出生 ,改善致突变环境 ,加强优生优育宣传 ,孕早期筛查及产前诊断工作尤为重要。
This article reports my room from January 1983 to July 1999, a total of 78 counseling outpatient counseling clinics and outpatient adulteration of patients with Down’s syndrome, the peripheral blood G-banding analysis showed that the results of trisomy 69 cases accounted for 88 46% 7 cases of translocation accounted for 8 97%, 2 cases of chimerism accounted for 25 6%. Children were typical of Down’s syndrome, a special face and signs, some children with congenital heart disease, these children with chromosomal abnormalities and the mother’s age, pregnancy medication, environmental factors, the parents themselves are carriers of chromosomal abnormalities and so on. Therefore, to prevent the birth of this child, to improve the mutagenic environment, to strengthen prenatal and postnatal care, early pregnancy screening and prenatal diagnosis is particularly important.