Article

Combined Optical Genome Mapping and CNV-Seq indentify Complex Y-Chromosome Rearrangements and Ectopy in 46,XX Testicular Disorder of Sex Development

2025-09-10

Abstract excerpt

<title>Abstract</title> <p>Objective To clarify the chromosomal structural variations in a patient with 46,XX testicular disorder of sex development (DSD) using combined genetic technologies. Methods Chromosome karyotype analysis and whole exome sequencing (WES) were initially performed in a phenotypically male patient. Further analyses using optical genome mapping (OGM) and CNV-seq were conducted on fresh periph...

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Literature Corpus work: 7a01ff19-438f-5a7b-a84b-7d559b17db32
DOI: 10.21203/rs.3.rs-7475133/v1

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Combined Optical Genome Mapping and CNV-Seq indentify Complex Y-Chromosome Rearrangements and Ectopy in 46,XX Testicular Disorder of Sex DevelopmentDOI 10.21203/rs.3.rs-7475133/v1Read

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