Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monosomy or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.2-p15.33 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.2-p15.33, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.2p15.33 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2. Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

中文翻译：

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在三个不良妊娠中从母体易位（4；5）（q33；p15）遗传的部分三体性 4q 和单体性 5p。

平衡相互染色体易位的携带者对于具有不平衡基因型和由此导致异常表型的后代具有已知的生殖风险。一旦平衡易位配子与正常配子受精，部分单体或部分三体胚胎将经历流产、胎儿停搏或胎儿畸形。我们报告了一名患有染色体平衡易位的女性，她有两次不良妊娠。为她第三次怀孕进行了产前诊断，以提供遗传咨询和指导她的生育能力。我们介绍了一名患有染色体平衡易位的女性，她有 3 次不良妊娠。常规 G 显带和 CNV-seq 用于分析羊水细胞和外周血的染色体核型和拷贝数变异。该女性的核型为 46,XX,t(4;5)(q33;p15)。在她第一次怀孕期间，由于胎儿水肿和腹水，进行了 odinopoeia。通过 CNV-seq 检查胎儿的脐带组织。结果显示，4q32.3-q35.2 的基因组增益为 24.18 Mb，5p15.2-p15.33 的基因组缺失为 10.84 Mb，15q11.1-q11.2 的基因组缺失为 2.36 Mb。在她第二次怀孕期间，她没有接受产前诊断，因为常规产前超声检查没有发现异常。2016年，她生下了一个男孩。男孩的核型为 46,XY,der(5)t(4;5)(q33;p15)mat。CNV-seq结果显示5号染色体捕获区5p15.2-p15.33短臂缺失，4号染色体远端4q32.3q35.2段拷贝增加，1号染色体段重复1q41q42.11 和第 17 号染色体片段 17p12 的重复。在她第三次怀孕期间，她在妊娠 17 周时接受了羊膜穿刺术。染色体核型提示 46,XY,der(5)t(4;5)(q33;p15)mat。CNV-seq 的结果显示，5 号染色体的短臂 (p) 在 5p15.2p15.33 段缺失，4 号染色体远端区域在 4q32.3q35.2 段重复。三个怀孕的染色体异常遗传自母亲。建议进行胚胎植入前遗传学诊断，以预防染色体异常儿童的出生。