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目的 了解女性矮身材与染色体核型之间的关系。方法 对 2 6 1例矮身材的女性患儿常规制备外周血淋巴细胞G显带标本 ,进行染色体核型分析 ,必要时做C带、高分辨G显带分析。根据临床表现将患儿分为两组 :A组为单纯生长落后组 92例 ;B组为疑诊Turner综合征组 16 9例。结果 两组的染色体核型 ,A组 :4 6 ,XX(n =82 ) ;4 5 ,X(n =5 ) ,4 5 ,X/ 4 6 ,XX(n =1) ;4 5 ,X/ 4 6 ,X ,i(Xq) (n =1) ;4 5 ,X/ 4 6 ,X ,mar(n =1) ;4 6 ,X ,del(X) (q12 ) (n =1) ;4 6 ,XX ,t(5 ,11) (5p11p ;5 q11q) (n =1)。B组 :4 6 ,XX(n =75 ) ;4 5 ,X(n =4 8) ;4 6 ,X ,i(Xq) (n =16 ) ;4 5 ,X/ 4 6 ,X ,i(Xq) (n =6 ) ;4 5 ,X/ 4 6 ,X ,mar(n =7) ;4 5 ,X/ 4 6 ,XX(n =2 ) ;4 5 ,X/ 4 6 ,X ,r(X) (n =1) ;4 6 ,XX/ 4 6 ,X ,i(Xq) (n =1) ;4 5 ,X/ 4 6 ,X ,del(X) (q12 ) (n =1) ;4 6 ,XX/ 4 6 ,X ,del(X) (q2 2 q2 4 ) (n =1) ;4 6 ,X ,del(Xp) (n =4 ) ;4 6 ,X ,del(Xq) (n =2 ) ;4 6 ,X ,dir dup(X) (q2 3→q2 5 ) (n =1) ;4 7,XXX(n =3) ;4 5 ,X/ 4 6 ,XY(n=1)。A、B两组患儿的年龄及染色体核型异常者的年龄比较有显著性差异。结论 ①矮身材的女性患儿染色体异常多见 ,故对矮身材的女孩应常规做染色体核型分析 ,以排除染?
Objective To understand the relationship between female short stature and karyotype. Methods A total of 216 female children with short stature were routinely prepared G - banding samples of peripheral blood lymphocytes for chromosome karyotype analysis and C banding and high - resolution G banding analysis as necessary. The children were divided into two groups based on clinical manifestations: group A was 92 patients with simple growth and backward group; Group B was 169 patients with suspected Turner syndrome. Results The chromosomal karyotypes of the two groups were as follows: group A: 46, XX (n = 82); 4 5, X (n = 5) / 4 6, X, i (Xq) (n = 1); 4 5, X / 4 6, X, mar ; 4 6, XX, t (5, 11) (5p11p; 5 q11q) (n = 1). Group B: 4 6, XX (n = 75); 4 5, X (n = 48); 4 6, X, i 4 5, X / 4 6, X, mar (n = 7); 4 5, X / 4 6, XX (n = 2); 4, X / 4 6, X, del (X) (q12) (n = 1); 4 (N = 1); 4 6, XX / 4 6, X, del (X) (q2 2 q2 4) (n = 1); 4 6, X, del 4, X, dir dup (X) (q2 3 → q2 5) (n = 1); 4 7, XXX (n = 3); 4 5, X / 4 6 , XY (n = 1). A, B two groups of children with age and chromosomal abnormalities in the age of those who have significant differences. Conclusion ① Short stature of female children with chromosomal abnormalities more common, so the short stature of girls should routinely do chromosomal karyotyping to rule out the dye?