CASE REPORT article
Front. Reprod. Health
Sec. Gynecology
Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation
Provisionally accepted
- Yulin Women and Children Health Care Hospital, Yulin, China
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Objective To characterize a rare fetal complex chromosomal rearrangement (CCR) derived from a maternal balanced translocation using integrated G-banding and CNV-seq analysis. Methods Integrated G-banding and CNV-seq enabled precise karyotypic determination in the fetus, with familial verification confirming its derivation. Results Karyotype analysis confirmed that the pregnant woman was a carrier of a balanced translocation, 46,XX,t(10;13)(p15;q22), while her husband had a normal karyotype. Combined G-banding and CNV-seq analyses diagnosed the fetal karyotype as 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat, resulting from 3:1 meiotic segregation of the maternal balanced translocation. Conclusion This case confirms the pivotal role of integrated G-banding and CNV-seq in diagnosing complex chromosomal rearrangements. For families with a high recurrence risk, PGT is a mandatory intervention to prevent subsequent adverse reproductive outcomes.
Keywords: Balanced translocation, Karyotype analysis, CNV-seq, CCRs, SSMC, PGT
Received: 01 Nov 2025; Accepted: 29 Nov 2025.
Copyright: © 2025 Deng, Zhang, Lai, Song, Pan, Liang, Lu, Ning, Li, Li, Chen, Li, Li and Liang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
LL Li
YN Liang
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