Treffer: Case Report: 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.

Title:
Case Report: 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.
Authors:
Deng, G. S., Zhang, D. H., Lai, Y. Q., Song, J. J., Pan, J. J., Liang, X. F., Lu, Y. H., Ning, S. S., Li, W. C., Li, X., Chen, Y. Y., Li, D. R., Li, L. L., Liang, Y. N.
Source:
Frontiers in Reproductive Health; 2025, p1-5, 5p
Subject Terms:
DIAGNOSIS of fetal diseases, DNA metabolism, PLACENTA, CYTOGENETICS, CHILD health services, RARE diseases, GENETIC markers, CELL physiology, NEURAL development, PRENATAL diagnosis, CHROMOSOME abnormalities, PREGNANT women, PREGNANCY outcomes, GENETIC counseling, KARYOTYPES, FETAL diseases, MICROARRAY technology, DISEASE relapse, SEQUENCE analysis, GENETIC testing, AMNIOCENTESIS, ABORTION, GENOTYPES, PHENOTYPES, DISEASE risk factors
Database:
Complementary Index

Weitere Informationen

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. [ABSTRACT FROM AUTHOR]

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