[关于16种人类染色体稀有物种的报告]

[Report on 16 rare species of human chromosomal].

作者信息

Han Wei-Tian, Wang Ge, Jiang Miao, Zhang Zhi-Fen, Liu Guang-Xing, Wang Chao-Xiang, Bian Chao-Ying, Yu Ping

机构信息

Liaoning Open Laboratory of Reproductive Medicine, Shenyang 110031,China.

出版信息

Yi Chuan. 2005 Mar;27(2):201-4.

PMID:15843345

Abstract

By examining the lymphocytic chromosomes of peripheral blood from patients with amenorrhea, spontaneous abortion and stillbirth history, .the 16 rare species of human chromosomal abnormal karyotypes were discovered. They were 46,XY,t(6;11)(q25;p15);46,XY,inv(3)(p25;q29);46,XY,t(7;18)(q10;p10);46,X,t(X;13)(q24;q14);46,XY,t(4;7)(q33;q22);46,XY,t(8;15)(q24;q15);46,XY,t(2;17)(q33;q25);46,XX,t(4;7)(q34;q11);46,XX,t(1;3)(p36;p23);46,XX,t(4;6)(q35;p11);46,X,inv(X)(q22;q28);46,XX,t(7;10)(p11;q26);46,XX,t(3;6)(p21;q23);46,XX,t(8;16)(p21;p13);46,XX,t(8;9)(q21;q34);46,XY,t(17;22)(q21;q11). Their clinical situation were described. Discussion on the relationship between the chromosomal aberrations and phenotype effect indicates the importance of chromosome karyotyping in patients with abnormal reproductive history.

摘要

通过检查有闭经、自然流产和死产史患者外周血的淋巴细胞染色体，发现了16种罕见的人类染色体异常核型。它们分别是46,XY,t(6;11)(q25;p15)；46,XY,inv(3)(p25;q29)；46,XY,t(7;18)(q10;p10)；46,X,t(X;13)(q24;q14)；46,XY,t(4;7)(q33;q22)；46,XY,t(8;15)(q24;q15)；46,XY,t(2;17)(q33;q25)；46,XX,t(4;7)(q34;q11)；46,XX,t(1;3)(p36;p23)；46,XX,t(4;6)(q35;p11)；46,X,inv(X)(q22;q28)；46,XX,t(7;10)(p11;q26)；46,XX,t(3;6)(p21;q23)；46,XX,t(8;16)(p21;p13)；46,XX,t(8;9)(q21;q34)；46,XY,t(17;22)(q21;q11)。描述了它们的临床情况。对染色体畸变与表型效应之间关系的讨论表明染色体核型分析在有异常生殖史患者中的重要性。