Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

BACKGROUND: Patients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic mechanisms need to be investigated. CASE PRESENTATION: Here, we combined exome and genome sequencing techniques to identify the precise breakpoints of heter...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Shuang, Cui, Qianwei, Yang, Shangying, Zhang, Fangxia, Li, Chunxia, Wang, Xiaoguang, Lei, Bo, Sheng, Xunlun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664609/
https://www.ncbi.nlm.nih.gov/pubmed/37993819
http://dx.doi.org/10.1186/s12887-023-04368-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664609/
https://www.ncbi.nlm.nih.gov/pubmed/37993819
http://dx.doi.org/10.1186/s12887-023-04368-5

Ejemplares similares