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Article

Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.

Journal of assisted reproduction and genetics - 1 Jan 2024

Xiao Yanqin, Cheng Dehua, Luo Keli, Li Mengge, Tan Yueqiu, Lin Ge, Hu Liang

Abstract excerpt

PURPOSE: To report genetic characteristics and associated risk of chromosomal breaks due to chromosomal rearrangements in large samples. METHODS: MicroSeq, a technique that combines chromosome microdissection and next-generation sequencing, was used to identify chromosomal breakpoints. Long-range PCR and Sanger sequencing were used to precisely characterize 100 breakpoints in 50 ABCR carriers. RESULTS: In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37993578
DOI: 10.1007/s10815-023-02986-7
PMCID: PMC10789712

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