A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature.
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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.
SUBMITTER: Deng T
PROVIDER: S-EPMC9207229 | biostudies-literature |
REPOSITORIES: biostudies-literature
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