摘要本文报道1例基于二代测序（next-generation sequencing，NGS）的植入前遗传学检测（preimplantation genetic testing，PGT）技术偶然发现隐匿性复杂染色体重排（complex chromosomal rearrangement，CCR）男性携带者的病例并进行文献复习。该病例因核型为46,XY,t（8；14）（p21；q13）而选择PGT助孕，胚胎的异常拷贝数变异（copy number variation，CNV）结果提示男方8号染色体可能存在2个不同的断裂点，推测其可能存在除了已知易位以外的其他结构异常。经改良高分辨G显带技术对夫妇外周血淋巴细胞分析证实了这一发现，最终确定该病例核型为46,XY,der（8）inv（8）（p22q12.2）t（8；14）（p22；q21.3）,der（14）t（8；14）。改良高分辨G显带技术可提高隐匿性CCRs的检出率，减少漏诊。本案例表明，通过对胚胎异常CNV结果的PGT分析，可能发现此前未检出的染色体异常，从而为患者提供更精准的遗传咨询和生殖决策支持。

abstractsThis study presents a case of a male carrier with a cryptic complex chromosomalrearrangement (CCR) incidentally identified by next-generation sequencing (NGS)-based preimplantation genetic testing (PGT), along with a literature review. The couple underwent PGT because of the male partner's known balanced translocation karyotype [46,XY,t(8;14)(p21;q13)]. Embryonic copy number variation (CNV) analysis unexpectedly revealed two distinct breakpoints on chromosome 8 in the male partner, suggesting additional structural abnormalities beyond the documented translocation. Modified high-resolution G-banding analysis of peripheral blood lymphocytes confirmed these findings. The male partner's high-resolution karyotype was ultimately characterized as 46,XY,der(8)inv(8)(p22q12.2)t(8;14)(p22;q21.3),der(14)t(8;14). The modified high-resolution G-banding technique demonstrated enhanced detection of cryptic CCRs, reducing diagnostic oversight. This case demonstrates that PGT analysis of abnormal embryonic CNV results can uncover previously undetected chromosomal abnormalities, thereby improving genetic counseling and reproductive decision-making.