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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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) |
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Format: | Book |
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BMC,
2023-03-01T00:00:00Z.
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