A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature.
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ABSTRACT:
SUBMITTER: Deng T
PROVIDER: S-EPMC9207229 | biostudies-literature | 2022 Jun
REPOSITORIES: biostudies-literature
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A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature.
Deng Tianqin T Liu Qingzhi Q Xie Jiansheng J Li Xuemei X Yao Bing B
Clinical case reports 20220619 6
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. ...[more]
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