矮身材女性患儿染色体核型分析及其临床意义

Karyotype analysis of the female with short stature and its clinical significance

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 analyze the karyotype in females with short stature.Methods 261 females with short stature were recruited from 1985 to 2000, and classified into two groups. Subjects in group A had simply short stature, those in group B were short stature accompanied by other clinical symptoms, such as webbed neck, high arched palate, low set ears, cubitus valgus, multiple pigmented nevi and other minor stigmata. Karyotype analysis of the peripheral blood lymphocytes were carried out by standard methods, G bind. If necessary, it would be done again by GTG, C bind or Brdu Ultravioleet R bind.Results There were 92 patients in group A and 169 in group B, and the ages were 9 44±4 33,13 29±5 24,respectively. Those in group A were younger significantly. (t=6 19,P<0 01). Karyotype studies showed the following results. Group A: 46,XX (n=82); 45,X (n=5); 45,X/46,XX(n=1); 45,X/46,X,i(Xq)(n=1); 45,X/46,X,mar(n=1); 46,X,del(X)(q12)(n=1); 46,XX,t(5,11)(5p11p;5q11q)(n=1)?Group B: 46, XX (n=75); 45,X (n=48); 46,X,i(Xq) (n=16); 45,X/46,X,i(Xq)(n=6); 45,X/46,X,mar(n=7); 45,X/46,XX(n=2); 45,X/46,X,r(X)(n=1); 46,XX/46,X,i(Xq)(n=1); 45,X/46,X,del(X)(q12)(n=1); 46,XX/46,X,del(X)(q22q24)(n=1); 46,X del(Xp) (n=4); 46,X del(Xq) (n=2); 46,X,dir dup(X)(q23→q25)(n=1); 47,XXX (n=3); 45,X/46,XY (n=1).Conclusion ①Young females with short stature tend to be abnormal in chromosome, whether or not the typical Turner syndrome presented.②The locus controlling stature of Turner syndrome was probably not only on the short arm but also on the long arm of the X chromosome.③Karyotype of 47, XXX can also have presentation of short stature.