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

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.

Detalles Bibliográficos
Autores principales: Deng, Tianqin, Liu, Qingzhi, Xie, Jiansheng, Li, Xuemei, Yao, Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207229/
https://www.ncbi.nlm.nih.gov/pubmed/35765297
http://dx.doi.org/10.1002/ccr3.5958

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9207229/
https://www.ncbi.nlm.nih.gov/pubmed/35765297
http://dx.doi.org/10.1002/ccr3.5958

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