Zhang H-G, Liu X-Y, Hou Y, Chen S, Deng S, Liu R-Z
Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin Province, China.
Department of Urology, China-Japan Friendship Hospital, Jilin University, Changchun, Jilin Province, China.
Genet Mol Res. 2015 Mar 31;14(1):2809-15. doi: 10.4238/2015.March.31.11.
Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6)(q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced translocation t(3;6). The first 2 pregnancies resulted in spontaneous abortions. Based on the proband karyotype, his father and half-brother were subjected to cytogenetic analysis, and both showed 46,XY, t(3;6)(q12;q27). After genetic counseling, the proband chose to continue the pregnancy. During the third pregnancy, the subject gave birth to a normal male infant. For parental carriers with balanced chromosomal translocations, natural pregnancy should be considered during genetic counseling.
虽然已知携带染色体结构重排的父母与复发性流产有关，但随后自然怀孕仍是有可能的。我们研究了一例t(3;6)(q12;q27)家族性平衡易位的生殖结局。先证者的核型分析显示为46,XY染色体，伴有平衡易位t(3;6)。前两次怀孕均导致自然流产。根据先证者的核型，对其父亲和同父异母兄弟进行了细胞遗传学分析，二者均显示为46,XY, t(3;6)(q12;q27)。经过遗传咨询后，先证者选择继续妊娠。在第三次怀孕期间，该患者生下了一名正常男婴。对于携带染色体平衡易位的父母，在遗传咨询时应考虑自然怀孕的可能性。
