Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele

Despite increased prenatal and postnatal use of array comparative genomic hybridization (aCGH), isolated 8p23.1 duplication remains rare and has been associated with a widely variable phenotype. Here, we report an isolated 8p23.1 duplication in a fetus with an omphalocele and encephalocele that were...

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Autores principales: Hicks, Melissa A., Ebrahim, Salah, Gonik, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985500/
https://www.ncbi.nlm.nih.gov/pubmed/36879850
http://dx.doi.org/10.1155/2023/5958223
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author Hicks, Melissa A.
Ebrahim, Salah
Gonik, Bernard
author_facet Hicks, Melissa A.
Ebrahim, Salah
Gonik, Bernard
author_sort Hicks, Melissa A.
collection PubMed
description Despite increased prenatal and postnatal use of array comparative genomic hybridization (aCGH), isolated 8p23.1 duplication remains rare and has been associated with a widely variable phenotype. Here, we report an isolated 8p23.1 duplication in a fetus with an omphalocele and encephalocele that were incompatible with life. Prenatal aCGH demonstrated a 3.75 Mb de novo duplication of 8p23.1. This region encompassed 54 genes, 21 of which are described in OMIM, including SOX7 and GATA4. The summarized case demonstrates phenotypic features not previously described in 8p23.1 duplication syndrome and is reported in order to enhance understanding of the phenotypic variation.
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spelling pubmed-99855002023-03-05 Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele Hicks, Melissa A. Ebrahim, Salah Gonik, Bernard Case Rep Genet Case Report Despite increased prenatal and postnatal use of array comparative genomic hybridization (aCGH), isolated 8p23.1 duplication remains rare and has been associated with a widely variable phenotype. Here, we report an isolated 8p23.1 duplication in a fetus with an omphalocele and encephalocele that were incompatible with life. Prenatal aCGH demonstrated a 3.75 Mb de novo duplication of 8p23.1. This region encompassed 54 genes, 21 of which are described in OMIM, including SOX7 and GATA4. The summarized case demonstrates phenotypic features not previously described in 8p23.1 duplication syndrome and is reported in order to enhance understanding of the phenotypic variation. Hindawi 2023-02-25 /pmc/articles/PMC9985500/ /pubmed/36879850 http://dx.doi.org/10.1155/2023/5958223 Text en Copyright © 2023 Melissa A. Hicks et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hicks, Melissa A.
Ebrahim, Salah
Gonik, Bernard
Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele
title Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele
title_full Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele
title_fullStr Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele
title_full_unstemmed Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele
title_short Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele
title_sort prenatal lethal diagnosis of 8p23.1 duplication syndrome associated with omphalocele and encephalocele
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985500/
https://www.ncbi.nlm.nih.gov/pubmed/36879850
http://dx.doi.org/10.1155/2023/5958223
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AT gonikbernard prenatallethaldiagnosisof8p231duplicationsyndromeassociatedwithomphaloceleandencephalocele

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