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目的分析矮小儿童的染色体异常。方法对156例矮小儿童进行外周血染色体检查,采用常规外周血淋巴细胞培养,G显带,油镜下每例计数30个中期分裂相,分析5个核型,对异常核型增加核型分析数,进行核型分析。结果:156例受检者,共检出异常核型32例。占20.5%。其中常染色体异常3例,占1.9%,其中21三体综合征单纯型1例,表现为智力低下,先天性心脏病,典型愚形面容,身材矮小。另2例为21三体综合征嵌合型,表现为身材矮小外,其他表现不明显。其中性染色体异常29例,占18.6%。分别为性染色体数目异常18例,性染色体结构异常11例。结论染色体异常是儿童身材矮小的一个重要原因,应引起临床医师的高度重视,特别是女童,应作为矮小诊断的常规检查。以免误诊漏诊。
Objective To analyze chromosomal abnormalities in dwarf children. Methods Peripheral blood samples were collected from 156 cases of dwarf children. Peripheral blood lymphocytes were cultured and G banding was performed. Each of 30 metaphase fission phases was counted under an oil-gas microscope. Five karyotypes were analyzed and karyotypes were analyzed for abnormal karyotype Number, for karyotyping. Results: Of the 156 subjects, 32 abnormal karyotypes were detected. Accounting for 20.5%. Of which autosomal abnormalities in 3 cases, accounting for 1.9%, of which 21 trisomy 21 cases of simple type, manifested as mental retardation, congenital heart disease, typical stupid face, short stature. The other two cases of trisomy 21 chimeric type, manifested as short stature, the other performance is not obvious. There were 29 cases of chromosomal abnormalities, accounting for 18.6%. Respectively, the number of sex chromosome abnormalities in 18 cases, 11 cases of sex chromosome abnormalities. Conclusions Chromosomal abnormalities are an important reason for short stature of children and should be taken seriously by clinicians, especially for girls, and should be used as a routine examination for short diagnosis. To avoid misdiagnosis.