The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3

(1) Background: Optical genome mapping (OGM) is a novel approach to identifying genomic structural variations with high accuracy and resolution. We report a proband with severe short stature caused by 46, XY, der (16) ins (16;15) (q23; q21.3q14) that was detected by OGM combined with other tests and...

Descripción completa

Detalles Bibliográficos
Autores principales: Ke, Xiaoan, Yang, Hongbo, Pan, Hui, Jiang, Yulin, Li, Mengmeng, Zhang, Hanzhe, Hao, Na, Zhu, Huijuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218401/
https://www.ncbi.nlm.nih.gov/pubmed/37239376
http://dx.doi.org/10.3390/genes14051016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218401/
https://www.ncbi.nlm.nih.gov/pubmed/37239376
http://dx.doi.org/10.3390/genes14051016

Ejemplares similares