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染色体显带技术在细胞遗传学中应用十余年来,已发现了300多种人类染色体畸变。据调查,在新生活婴中染色体异常占0.8％,在一般人群中染色体异常占0.5％。自从1966年Steel建立羊水细胞体外培养方法以来,染色体异常的产前诊断逐步推广。染色体异常的诊断和预防在临床工作中都进入了实际应用阶段。国内近年来增设了一些临床细胞遗传实验室并开展了工作,但有关遗传咨询门诊病例的细胞遗传学研究报导尚少。现将我们遗传咨询门诊的染色体畸变病例报告如下。
Chromosome banding technology used in cytogenetics more than ten years, has found more than 300 kinds of human chromosome aberrations. According to the survey, chromosomal abnormalities accounted for 0.8% of newborns and 0.5% of chromosomal abnormalities in the general population. Since 1966, Steel established amniotic fluid cell culture in vitro, prenatal diagnosis of chromosomal abnormalities has been gradually promoted. Diagnosis and prevention of chromosomal abnormalities in clinical work have entered the practical application stage. In recent years, a number of clinical cytogenetic laboratories have been established in China and work has been carried out. However, studies on cytogenetics of genetic counseling outpatient clinics are still rare. Now we genetic counseling clinic of chromosome aberration cases are as follows.