Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion
We report a term male neonate presenting with a “prune belly,” bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes. Analysis with the whole genome SNP microarray revealed an interstitial deletion of about 1.49 megabase (MB) at chromosome 17q12. We...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
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| Series: | Case Reports in Urology |
| Online Access: | http://dx.doi.org/10.1155/2022/7364286 |
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| _version_ | 1850219882032922624 |
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| author | Surasak Puvabanditsin Miry Shim Jeffrey Suell Jeffrey Manzano Kristin Blackledge Avram Bursky-Tammam Rajeev Mehta |
| author_facet | Surasak Puvabanditsin Miry Shim Jeffrey Suell Jeffrey Manzano Kristin Blackledge Avram Bursky-Tammam Rajeev Mehta |
| author_sort | Surasak Puvabanditsin |
| collection | DOAJ |
| description | We report a term male neonate presenting with a “prune belly,” bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes. Analysis with the whole genome SNP microarray revealed an interstitial deletion of about 1.49 megabase (MB) at chromosome 17q12. We present a rare association of prune belly syndrome with a chromosomal deletion in this same region. |
| format | Article |
| id | doaj-art-7622fb52d5fd4b8e9589b551e58ecfbd |
| institution | OA Journals |
| issn | 2090-6978 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Urology |
| spelling | doaj-art-7622fb52d5fd4b8e9589b551e58ecfbd2025-08-20T02:07:15ZengWileyCase Reports in Urology2090-69782022-01-01202210.1155/2022/7364286Prune Belly Syndrome Associated with Interstitial 17q12 MicrodeletionSurasak Puvabanditsin0Miry Shim1Jeffrey Suell2Jeffrey Manzano3Kristin Blackledge4Avram Bursky-Tammam5Rajeev Mehta6Department of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of PediatricsWe report a term male neonate presenting with a “prune belly,” bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes. Analysis with the whole genome SNP microarray revealed an interstitial deletion of about 1.49 megabase (MB) at chromosome 17q12. We present a rare association of prune belly syndrome with a chromosomal deletion in this same region.http://dx.doi.org/10.1155/2022/7364286 |
| spellingShingle | Surasak Puvabanditsin Miry Shim Jeffrey Suell Jeffrey Manzano Kristin Blackledge Avram Bursky-Tammam Rajeev Mehta Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion Case Reports in Urology |
| title | Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion |
| title_full | Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion |
| title_fullStr | Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion |
| title_full_unstemmed | Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion |
| title_short | Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion |
| title_sort | prune belly syndrome associated with interstitial 17q12 microdeletion |
| url | http://dx.doi.org/10.1155/2022/7364286 |
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