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A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
- Source :
- Clinical Case Reports, Vol 10, Iss 6, Pp n/a-n/a (2022)
- Publication Year :
- 2022
- Publisher :
- Wiley, 2022.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 10
- Issue :
- 6
- Database :
- Directory of Open Access Journals
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.6c52e84312a54f38a5567815f913df7b
- Document Type :
- article
- Full Text :
- https://doi.org/10.1002/ccr3.5958