Published online Jan 6, 2020. doi: 10.12998/wjcc.v8.i1.222
Peer-review started: July 28, 2019
First decision: November 12, 2019
Revised: November 28, 2019
Accepted: December 13, 2019
Article in press: December 13, 2019
Published online: January 6, 2020
Balanced translocation refers to the process where breakage and reconnection of chromosomes occur at abnormal positions. As the genetic substance with balanced translocation in individuals does not change, which is usually characterized by normal phenotype and intelligence, the individuals seek medical service after many miscarriages, resulting in considerable mental and physical burdens of the family members. In the current era with rapid advances in detection technology, cytogenetic examination, as a definitive approach, still plays an essential role.
We report six cases with balanced chromosome translocation: Case 1: 46,XY,t(3;12)(q27;q24.1), infertility after 3 years of marriage; Case 2: 46,XX,t(4;16)(q31;q12), small uterus and irregular menstruation; Case 3: 46,XY,t(4;5)(q33;q13),9qh+, not pregnant after arrested fetal development; Case 4: 46,XX,t(11;17)(q13;p11.2), not pregnant after two times of spontaneous abortion; Case 5: 46,XX,t(10;13)(q24;q21.2), not pregnant after arrested fetal development for once; Case 6: 46,XX,t(1;4)(p36.1;q31.1), not pregnant after arrested fetal development for two times. The first four cases had chromosomal aberration karyotypes.
These results suggested that balanced chromosomal translocation carriers are associated with reproductive risks and a very high probability of abnormal pregnancy. The discovery of the first four reported chromosomal aberration karyotypes provides an important basis for studying the occurrence of genetic diseases.
Core tip: The genetic substance with balanced translocation in individuals does not change, which is usually characterized by normal phenotype. Here, we report six cases with balanced chromosome translocation: Case 1: 46,XY,t(3;12)(q27;q24.1), infertility for 3 years; Case 2: 46,XX,t(4;16)(q31;q12), small uterus and irregular menstruation; Case 3: 46,XY,t(4;5)(q33;q13),9qh+, infertility; Case 4: 46,XX,t(11;17)(q13;p11.2), two times of spontaneous abortion; Case 5: 46,XX,t(10;13)(q24;q21.2), arrested fetal development for one time; Case 6: 46,XX,t(1;4)(p36.1;q31.1), arrested fetal development for two times. This study suggested that balanced chromosomal translocation carriers are associated with reproductive risks. The first four reported chromosomal aberration karyotypes provide an important basis for studying the occurrence of genetic diseases.