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本文是产前诊断研究连续生两胎Down’s氏综合征患儿,我们通过羊水细胞与胎儿脐带血细胞培养,进行染色体G分带及高分辨的分析,确诊胎儿核型为21三体(47,XX+21).人工流产的胎儿表现为眼距宽,鼻梁扁塌,耳下位,伸舌张口,手通贯掌,草鞋脚和大姆趾与二趾分开等征状.胎儿羊水氨基酸分析,苏氨酸979.34Ngram,比对照组高,这种异常可能与染色体畸变导至基因调节活动异常有关.产前诊断研究染色体与氨基酸的异常在遗传病的预防与优生都是很重要的.
This article is a prenatal diagnosis of Down’s syndrome in children with two consecutive children, we through amniotic fluid cells and fetal umbilical cord blood cell culture, chromosome G banding and high resolution analysis confirmed fetal karyotype 21 trisomy (47, XX +21) .The abortion of fetus showed wide ocular distance, flat nose bridge, lower ear position, stretch tongue mouth, hand through the palm, grass toes feet and big toe and two toes separated and other symptoms.Animal amniotic fluid amino acid analysis, the Soviet Union Serum 979.34Ngram, which is higher than the control group, may play an important role in the abnormality of chromosomal aberrations leading to gene regulatory activity.Studies on prenatal diagnosis of chromosomal and amino acid abnormalities are very important in the prevention and eugenics of genetic diseases.