350例矮身材女童染色体核型分析

Chromosome karyotype analysis of 350 female children with short stature

目的分析女性矮身材患者的染色体核型。方法收集2007年1月至2016年8月金华市中心医院儿童生长发育门诊收治的以身材矮小为主诉的350例女童,对其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。结果发现异常核型13例,异常率为3.7%,其中染色体数目异常者7例,分别为45,X 3例,45,X/46,XX 2例,45,XX/47,XXX 2例;染色体结构异常者6例,分别为46,XX,DEL(18)(q21.3)2例,46,XX,inv(9)(p11,q12)2例,46,XX,i(21)(q10)2例,46,XX,inv(9)1例。结论染色体异常是女童矮身材的一个重要原因,需要进行常规检查。

Objective To analyze the chromosome karyotype of girls with short stature. Methods From January 2007 to August 2016 totally 350 girls with short stature accepted peripheral blood chromosome check by using conventional peripheral blood lymphocyte culture, G-banding, and 30 mid-phase split phases in each group. Five karyotypes were analyzed. Number of karyotypes for analysis was increased for abnormal karyotype. Results The results showed abnormal karyotype in 13 cases with abnormal rate of 3.7%, including 3 cases with 45,X,2 cases with 45,X / 46,XX, 2 cases with 45,XX / 47,XXX, 2 cases with 46,XX, DEL （18） （q21.3）, 2 cases with 46 , XX, inv （9） （E11, q12）, 2 cases with 46,XX, i （21） （ql0）, and 1 case with 46, XX, inv （9）. Conclusion Chromosomal abnormality is an important reason for short stature of girls, and routine screening is required.