17q12微缺失综合征超声表现及产前产后管理：2例报告

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

摘要: 17q12微缺失综合征是一种由17号染色体长臂12区域微缺失引起的罕见综合征，其临床表现复杂多样，包括肾脏异常、内分泌代谢异常及神经发育障碍等。本文报告2例17q12微缺失综合征病例，分别描述其产前超声表现、基因检测结果及产后随访情况，旨在为临床医生更好地诊治17q12微缺失综合征人群提供借鉴。

Abstract: 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.