A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
16q24.3微缺失KBG综合征产前诊断一例及文献复习
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作者：Tianqin Deng, Qingzhi Liu, Jiansheng Xie, Xuemei Li, Bing Yao
Abstract
Here we report a case of a 16q24.3 microdeletion KBG syndrome (KBGS) in a fetus. The absence of a well-defined phenotype poses a challenge for genetic diagnosis. This report demonstrated that the high-risk chromosome 21 trisomy could be the first manifestation of KBGS, as observed in this case.
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