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目的探讨遗传咨询中儿童染色体异常核型的频率和类型。方法 598例儿童无菌外周血常规接种、培养、制片、G显带分析。结果 598例儿童检出染色体异常核型288例,异常检出率为48.16%;包括34种异常核型,其中常染色体异常263例(91.31%),性染色体数目及结构异常25例(8.68%),以Downs’综合征和Turner综合征最为常见。结论儿童染色体异常核型以21-三体为主,其次为性染色体异常,临床上应及时对不明原因智力低下、先天畸形和生长发育迟缓儿童进行染色体筛查,以利于遗传性疾病的早期干预和管理。
Objective To investigate the frequency and types of karyotype abnormalities in children with genetic counseling. Methods 598 children with sterile peripheral blood routine inoculation, culture, production, G - banding analysis. Results There were 288 karyotype abnormalities detected in 598 children (48.16%), including 34 abnormal karyotypes, of which 263 (91.31%) were autosomal abnormalities, 25 (8.68% ), With Downs’ syndrome and Turner syndrome the most common. Conclusion Chromosomal abnormalities in children with 21-trisomic karyotype, followed by sex chromosome abnormalities, clinically timely and timely diagnosis of unknown causes of mental retardation, congenital malformations and growth retardation in children with chromosomal screening to facilitate the early intervention of genetic diseases And management.