Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing

Abstract To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, includin...

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Autores principales:	Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Nature Portfolio 2025-01-01
Colección:	Scientific Reports
Materias:	Phelan-McDermid syndrome Nanopore sequencing Cryptic balanced translocation 22q13.33 deletion
Acceso en línea:	https://doi.org/10.1038/s41598-025-87083-8
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