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

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

Abstract 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...

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Bibliographic Details
Main Authors: Hui Yin, Hua Xie, Jizhen Zou, Xue Ye, Ying Liu, Cai He, Shaofang Shangguan, Haoran Liu, Xiaoli Chen, Xiaobo Chen
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Pediatrics
Subjects:
Isodicentric Y chromosome
Mosaicism
High-throughput sequencing
Precise diagnosis
Genetic counselling
Online Access:https://doi.org/10.1186/s12887-023-03872-y

Internet

https://doi.org/10.1186/s12887-023-03872-y

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