世界首报7例染色体异常核型

THE FIRST REPORT OF 7 KARYOTYPES OF HUMAN CHROMOSOME ABNORMALITIES IN THE WORLD

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。

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.