A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling

BACKGROUND: Isodicentric Y chromosome (idic(Y)) is the most commonly reported aberration of the human Y chromosome, which is an important cause of abnormal sexual development. The breakpoints of isodicentric Y chromosome mostly occurred in Yq11.2 and Yp11.3, however, the breakpoints in Yq12 are rela...

Descripción completa

Detalles Bibliográficos
Autores principales: Yin, Hui, Xie, Hua, Zou, Jizhen, Ye, Xue, Liu, Ying, He, Cai, Shangguan, Shaofang, Liu, Haoran, Chen, Xiaoli, Chen, Xiaobo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985243/
https://www.ncbi.nlm.nih.gov/pubmed/36870983
http://dx.doi.org/10.1186/s12887-023-03872-y

Ejemplares similares

Ejemplares similares