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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2023-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2023/5958223 |
| _version_ | 1797869993362194432 |
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| author | Melissa A. Hicks Salah Ebrahim Bernard Gonik |
| author_facet | Melissa A. Hicks Salah Ebrahim Bernard Gonik |
| author_sort | Melissa A. Hicks |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-10T00:21:18Z |
| format | Article |
| id | doaj.art-ade7d21a751b42348f7ce5a5a48fb515 |
| institution | Directory Open Access Journal |
| issn | 2090-6552 |
| language | English |
| last_indexed | 2024-04-10T00:21:18Z |
| publishDate | 2023-01-01 |
| publisher | Hindawi Limited |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj.art-ade7d21a751b42348f7ce5a5a48fb5152023-03-16T00:01:38ZengHindawi LimitedCase Reports in Genetics2090-65522023-01-01202310.1155/2023/5958223Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and EncephaloceleMelissa A. Hicks0Salah Ebrahim1Bernard Gonik2Department of PathologyDepartment of CytogeneticsDepartment of Obstetrics and GynecologyDespite 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.http://dx.doi.org/10.1155/2023/5958223 |
| spellingShingle | Melissa A. Hicks Salah Ebrahim Bernard Gonik Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2023/5958223 |
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