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Sex development disorder with discordant chromosome karyotype and gene detection: a case report and literature review
Medical Journal of Chinese People′s Liberation Army   Vol. 50, Issue 1, Pages: 50-56(2025)
Clinical Research | 更新时间：2025-01-23
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    • Sex development disorder with discordant chromosome karyotype and gene detection: a case report and literature review

    • “In the field of diagnosis and treatment of sexual development abnormalities, the First Affiliated Hospital of Hebei North University reported a case where the chromosome karyotype did not match the genetic test results. Through multi germ cell sampling and fluorescence in situ hybridization technology, the distribution differences of Y chromosome in the gonads were revealed, providing new insights into the understanding of chimerism in sexual development abnormalities.”

    • DOI：10.11855/j.issn.0577-7402.1139.2024.1018    

      CLC： R711.1;R394.1

    • Published：28 January 2025，

      Received：01 August 2024，

      Accepted：2024-09-08

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  • REN YAN-LIN, LI YA-LI, LI KUN, et al. Sex development disorder with discordant chromosome karyotype and gene detection: a case report and literature review. [J]. Medical journal of chinese people′s liberation army, 2025, 50(1): 50-56. DOI： 10.11855/j.issn.0577-7402.1139.2024.1018.

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Li Ya-Li
Li Kun
Zhang Fan
Rong Li-Min
Yu Xiao-Ping
Gu Jun

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Department of Reproductive Genetics, Hebei Provincial People's Hospital
Department of Pathology
Department of Endocrinology, the First Affiliated Hospital of Hebei North University
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