Objective To explore chromosome karyotyping and the relationship between chromosomal abnormalities and diseases in children. Methods Chromosome karyotyping analysis was performed on 1 750 children during genetic counseling. Patients were screened by multiplex ligation-dependent probe amplification to determine the source of small supernumerary marker chromosomes. Results The, total of 242 cases of chromosome abnormal karyotypes was detected with detectable rate of 13.8%. Of them, it was found 181 patients with abnormal autosomal numbers (74.8%) , 28 cases with abnormal autosomal structure (11.6%) , 22 cases with sex chromosome abnormalities (9.1%),11 cases with chromosome polymorphism (4.5%) and one case with 45, XX, psu die (11; 9) (pl5; p24), which was reported the first time in the world. Conclusions Abnormal chromosome is one of important causes that result in growth and development delay, mental retardation and disorders of sex differentiation in children. Routine chromosome examination can provide scientific basis for clinical diagnosis and treatment.%目的 探讨遗传咨询儿童染色体核型情况,研究染色体异常与疾病的关系.方法 对1 750名遗传咨询儿童进行外周血染色体核型分析.用多重连接探针扩增技术(MLPA)检测染色体的亚端粒,确定小标记染色休(SMCs)的来源.结果 共检出异常核型242例,异常率13.8％.常染色体数目异常181例,占异常核型的74.8％；常染色体结构异常28例,占11.6％；性染色体异常22例,占9.1％；染色体多态性11例,占4.5％.发现1例45,XX,psudic(11; 9) (p15; p24)核型,该核型为世界首次报道.结论 染色体异常是导致儿童生长发育迟缓、智力低下和性分化异常等疾病的重要原因之一,常规染色体检查,可为临床诊断和治疗提供科学依据.
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