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本文报告利用外周血染色体检查技术,在3,350例被检对象中发现232例染色体异常,异常检出率为6.9%.于大系列研究方面,该组资料在国内处领先地位,部份异常核型属国内首报.此外,本文强调,外周血染色体检查技术在探索发育畸形和智力低下的病因,协助诊断妇产科和泌尿外科疾患,指导生育等方面具有重要的作用.
In this paper, 232 chromosomal abnormalities were detected in 3,350 subjects with an abnormal detection rate of 6.9% using peripheral blood chromosomal test. In the large series of studies, the data in this group are at the leading position in the country, with some abnormal karyotypes In addition, this article emphasizes that peripheral blood chromosomal examination in exploring the etiology of developmental deformities and mental retardation, to assist in the diagnosis of obstetrics and gynecology and urological diseases, and guidance of fertility and other aspects play an important role.