ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1550937
This article is part of the Research TopicInsights in Genetics of Common and Rare Diseases 2024View all 12 articles
Clinical Features and Genetic Analysis of a Family with t(5;9)(p15;p24) Balanced Translocation Leading to Cri-du-chat Syndrome in Offspring
Provisionally accepted
- 1First Affiliated Hospital of Henan University of Traditional Chinese Medicine, Zhengzhou, China
- 2Department of Obstetrics and Gynecology, The First Affiliated Hospital of Henan University of Chinese Medicine, zheng zhou, China
- 3Guangzhou Kingmed Diagnostics Group Co., Ltd., Guangzhou, China
- 4Department of Nephrology, Henan Provincial People’s Hospital, Zhengzhou, Henan Province, China
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Background: Balanced translocations are common chromosomal structural abnormalities that usually do not involve a gain or loss of genetic material;and carriers usually display normal phenotypes and intelligence. However, unbalanced rearranged gametes can be produced during the meiotic division of reproductive cells, leading to infertility, miscarriage, stillbirth, or the birth of newborns with malformations and chromosomal abnormalities [1]. These adverse pregnancy outcomes create significant burdens for families and societies and affect the quality of life of newborns, threatening their health.Objective: Individuals carrying balanced translocations can have phenotypically normal offspring, but they also face high risks of natural miscarriage and giving birth to newborns with chromosomal abnormalities. We characterized individual clinical features and conducted a genetic analysis of the members of a family with t(5;9)(p15;p24) balanced translocation leading to Cri-du-chat syndrome in the offspring.Study Design: We performed a chromosomal karyotyping with high-resolution Gbanding on the proband and her family members to detect their chromosomal configurations. We also used chromosomal microarray analyses (CMA) to detect copy number variants. Enrichment analysis of genes in the duplicated or deleted regions of 5p and 9p was performed using Metascape.Results: The proband (III7), her father (II3), her brother (III5), and her cousin (III14) were all carriers of the t(5;9)(p15;p24) balanced translocation. Offspring (IV5, IV7, IV9, and IV12) were affected. Genetic microarray results of IV7 showed a 26.3 Mb deletion on chromosome 5 and a 15.3 Mb duplication on chromosome 9. Genetic microarray results of IV5, IV9, and IV12 showed a 26.5 Mb duplication on chromosome 5 and a 15.4 Mb deletion on chromosome 9. Conclusion: This study reports a rare familial balanced translocation pedigree, particularly noting that the offspring can suffer from Cri-du-chat syndrome, which suggests a potential new genetic model for this syndrome. It provides novel insights for genetic counseling and prenatal diagnosis in patients with adverse pregnancy outcomes before attempting another pregnancy.
Keywords: Balanced Translocation Family, Characteristics, Cri-du-Chat Syndrome, Prenatal Diagnosis, Genetic Counseling
Received: 24 Dec 2024; Accepted: 22 Apr 2025.
Copyright: © 2025 Zhao, Chen, Ren, Li, Zhang, Li and Wang. 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: Fengyu Wang, Department of Nephrology, Henan Provincial People’s Hospital, Zhengzhou, 450000, Henan Province, China
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