| 世界首报7例染色体异常核型 |
| |
| 引用本文： | 郑红 赵素. 世界首报7例染色体异常核型[J]. 中国医科大学学报, 1989, 18(2): 142-144 |
| |
| 作者姓名： | 郑红 赵素 |
| |
| 作者单位： | 中国医科大学附属第三医院细胞遗传室儿科组(郑红，赵素，郝明革，江泽菲，昝书亮，武盈玉)，中国医科大学附属第三医院细胞遗传室儿科组(张桂芳) |
| |
| 摘 要： | 本文首报7例世界人类染色体异常核型如下: 46,XX,t(1;7)(p32;p22);46,XY,t(5;11)(q31;q23); 46,XY,t(3;6)(q21;q25);47,XY, 21,t(5;11)(q31;q23); 46,XX,t(X;14)(q13;q11);47,XY, 21,inv(6)(p21;q21); 46,XY,t(3;4)(q12;p11); 并就染色体平衡易位患者的表型效应及平衡易位染色体对染色体复合畸变的影响做了初步探讨。
|
| 关 键 词： | 平衡易位 染色体畸变 21-三体征 |
THE FIRST REPORT OF 7 KARYOTYPES OF HUMAN CHROMOSOME ABNORMALITIES IN THE WORLD |
| |
| Zheng Hong,et al. THE FIRST REPORT OF 7 KARYOTYPES OF HUMAN CHROMOSOME ABNORMALITIES IN THE WORLD[J]. Journal of China Medical University, 1989, 18(2): 142-144 |
| |
| Authors: | Zheng Hong et al |
| |
| Affiliation: | Pediatrics Croup of Cytogenetics Lab. The Third Affiliated Hospital |
| |
| Abstract: | Seven cases of new karyotypes of chromosome abnormalities were found which were not reported previously in the world.46,, XX, t (1; 7) (P32;P22); ,16, XY, t (5; 11) (q31;q23) ; 46, XY, t (3;6) (q21;q25) ; 47, XY, 21, t (5;11) (q31;q23) ;46, XX, t (X;14) (q13;q11) ; 47, XY, 21, inv(6) (p21;q21)46, XY, t (3;4) (q12;P11) ;The relationship between balanced translecation and phenotypes as well as its effects on the complex chromosome abnormalities are preliminarity disoussed. |
| |
| Keywords: | balance translecation chromoseme abnormalities trisomy 21 |
| 本文献已被 CNKI 维普 等数据库收录！ |
|
