A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature.

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 | 2022 Jun

REPOSITORIES: biostudies-literature