WANG Ming, YANG Meng, OUYANG Yunshu, LÜ Ke, PAN Hui, DAI Qing, MENG Hua, LIU Zhenzhen, YOU Hui, JIANG Yulin. Ultrasound Manifestations of 17q12 Microdeletion Syndrome and Prenatal and Postnatal Management: A Report of Two CasesJ. Medical Journal of Peking Union Medical College Hospital. DOI: 10.12290/xhyxzz.2025-0293
Citation: WANG Ming, YANG Meng, OUYANG Yunshu, LÜ Ke, PAN Hui, DAI Qing, MENG Hua, LIU Zhenzhen, YOU Hui, JIANG Yulin. Ultrasound Manifestations of 17q12 Microdeletion Syndrome and Prenatal and Postnatal Management: A Report of Two CasesJ. Medical Journal of Peking Union Medical College Hospital. DOI: 10.12290/xhyxzz.2025-0293

Ultrasound Manifestations of 17q12 Microdeletion Syndrome and Prenatal and Postnatal Management: A Report of Two Cases

  • 17q12 microdeletion syndrome is a rare condition resulting from a microdeletion in the q12 region of the long arm of chromosome 17. Its clinical manifestations are complex and varied, encompassing renal abnormalities, endocrine and metabolic disorders, as well as neurodevelopmental disorders. In this paper, we present two cases of 17q12 microdeletion syndrome, detailing their prenatal ultrasound findings, genetic testing results, and postnatal follow-up outcomes, with the aim of providing a reference for clinicians to enhance the diagnosis and treatment of individuals with 17q12 microdeletion syndrome.
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