Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR

Abstract Objective This study completed the karyotyping of a patient with a complex chromosomal insertion and identified the location of the breakpoint for implementing preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) to differentiate between normal and carrier embr...

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Autores principales:	Tingting Zheng, Dehua Cheng, Yuxia Yang, Sijia Lu, Huiying Li, Liangqun Xie, Qinhua Li, Hong Ye
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2026-01-01
Colección:	BMC Genomics
Materias:	Complex chromosomal rearrangements Preimplantation genetic testing for chromosomal structural rearrangements Chromosome conformation-based karyotyping Mapping allele with resolved carrier status Complex chromosomal insertion
Acceso en línea:	https://doi.org/10.1186/s12864-025-12515-8
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