Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes

Preimplantation genetic testing plays a critical role in enabling a balanced translocation carrier to obtain the normal embryo. Identifying the precise breakpoints for the carriers with phenotypic abnormity, allows us to reveal disrupted genes. In this study, a seemingly balanced translocation 46, X...

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Detalles Bibliográficos
Autores principales: Wang, Yanan, Zhao, Zhenhua, Fu, Xinyu, Li, Shufang, Zhang, Qiuyan, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9469083/
https://www.ncbi.nlm.nih.gov/pubmed/36110201
http://dx.doi.org/10.3389/fgene.2022.883398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9469083/
https://www.ncbi.nlm.nih.gov/pubmed/36110201
http://dx.doi.org/10.3389/fgene.2022.883398

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