Cytogenomic characterization of karyotypes with additional autosomal material

Abstract Chromosomal rearrangements involving additional material in individuals with phenotypic alterations usually result in partial trisomy, often accompanied by partial monosomy. To characterize chromosomal rearrangements and analyze genomic characteristics in the breakpoint regions in 31 patien...

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Bibliographic Details
Main Authors: Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, Débora Cristina Batista Rosolen, Chong Ae Kim, Maria Isabel Melaragno
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-97077-1
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