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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書誌詳細

出版年:	Scientific Reports
主要な著者:	Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, Débora Cristina Batista Rosolen, Chong Ae Kim, Maria Isabel Melaragno
フォーマット:	論文
言語:	英語
出版事項:	Nature Portfolio 2025-04-01
主題:	Chromosomes Karyotype Duplication Additional material CNVs A/B compartments
オンライン･アクセス:	https://doi.org/10.1038/s41598-025-97077-1