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[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Yijuan Huang·Yuanqiu Chen·Shaobin Lin·Zhiqiang Zhang·Chenyu Gou·Si Li·Xiaohong Wang·Tongtong Chen·Yu Gao·Weiying Jiang
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Abstract

OBJECTIVE: To explore the genetic characteristics of a complex balanced translocation involving four non-homologous chromosomes in a Chinese pedigree using optical genomic mapping (OGM). METHODS: A woman with primary infertility and her family members who presented at the Prenatal Diagnosis Center of the Sixth Affiliated Hospital of Sun Yat-sen University in October 2021 were selected as study subjects. Comprehensive analysis and verification of chromosomal abnormalities were conducted through conventional G-band karyotyping analysis, single nucleotide polymorphism microarray (SNP array) and OGM. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: E2022210). RESULTS: G-band karyotyping analysis indicated that the proband, her father, and younger brother have all carried a complex translocation involving four chromosomes. SNP array analysis revealed a duplication of approximately 21.63 Mb in the 9p24.1-p21.1 region in the proband's younger brother, while no abnormality was detected in other family members. OGM confirmed that the complex balanced translocation has involved chromosomes 5, 8, 9, and 10. CONCLUSION: The proband has harbored a complex balanced translocation. OGM has demonstrated certain advantages in characterization of complex chromosomal structural abnormalities.

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HumansTranslocation, GeneticFemalePedigreeAsian PeopleMalePolymorphism, Single NucleotideAdultKaryotypingChromosome MappingChromosomes, Human, Pair 10Chromosomes, Human, Pair 9Chromosomes, Human, Pair 5East Asian PeopleJournal ArticleCase ReportsEnglish Abstract

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Yijuan Huang, Yuanqiu Chen, Shaobin Lin, Zhiqiang Zhang, Chenyu Gou, Si Li, Xiaohong Wang, Tongtong Chen, Yu Gao, Weiying Jiang. 2026-09-10. [Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].. https://doi.org/10.3760/cma.j.cn511374-20240418-00241

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Adult subjectEast Asian People subjectFemale subjectHumans subjectJournal Article subjectMale subjectPolymorphism, Single Nucleotide subject

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