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目的分析女童身材矮小细胞遗传学方面的原因。方法对969例身材矮小的女童做外周血染色体检查,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。结果发现异常核型264例,异常率为27.2%。其中45X 77例(29.1%),45X/46XX嵌合76例(28.8%),45X/46Xi(Xq)27例(12.2%),46Xi(Xq)20例(7.6%),46XX/47XXX 9例(3.4%),46X,del(Xp)7例(2.6%),45X/46XY 6例(2.2%)。结论染色体异常是女童身材矮小的一个重要原因,应引起临床医师的高度重视,可作为常规检查。
Objective To analyze the causes of the short stature cytogenetics in girls. Methods Peripheral blood chromosome examination was performed on 969 short stature girls. Peripheral blood lymphocytes were cultured with conventional G - banding and 30 metaphases were counted under an oil microscope. Five karyotypes were analyzed and the number of abnormal karyotypes increased Type analysis, karyotype analysis. 264 cases of abnormal karyotype were found, the abnormal rate was 27.2%. Among them, 77 cases were 45X (29.1%), 45 cases were 76 cases (28.8%) with 45X / 46XX mosaic, 27 cases were 12 cases with 45X / 46Xi (3.4%), 46X, del (Xp) 7 cases (2.6%) and 45X / 46XY 6 cases (2.2%). Conclusions Chromosome abnormality is an important reason for the short stature of a girl, which should be highly regarded by clinicians and can be used as a routine examination.