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
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author Deng, Tianqin
Liu, Qingzhi
Xie, Jiansheng
Li, Xuemei
Yao, Bing
author_facet Deng, Tianqin
Liu, Qingzhi
Xie, Jiansheng
Li, Xuemei
Yao, Bing
author_sort Deng, Tianqin
collection PubMed
description 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.
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spelling pubmed-92072292022-06-27 A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature Deng, Tianqin Liu, Qingzhi Xie, Jiansheng Li, Xuemei Yao, Bing Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-06-19 /pmc/articles/PMC9207229/ /pubmed/35765297 http://dx.doi.org/10.1002/ccr3.5958 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Deng, Tianqin
Liu, Qingzhi
Xie, Jiansheng
Li, Xuemei
Yao, Bing
A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
title A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
title_full A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
title_fullStr A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
title_full_unstemmed A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
title_short A case of prenatal diagnosis of 16q24.3 microdeletion KBG syndrome and review of the literature
title_sort case of prenatal diagnosis of 16q24.3 microdeletion kbg syndrome and review of the literature
topic Case Report
url 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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