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

• Main Authors: Hui Yin (Author), Hua Xie (Author), Jizhen Zou (Author), Xue Ye (Author), Ying Liu (Author), Cai He (Author), Shaofang Shangguan (Author), Haoran Liu (Author), Xiaoli Chen (Author), Xiaobo Chen (Author)
• Format: Book
• Published: BMC, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...