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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Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, Shim, Miry, Suell, Jeffrey, Manzano, Jeffrey, Blackledge, Kristin, Bursky-Tammam, Avram, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860567/
https://www.ncbi.nlm.nih.gov/pubmed/35198258
http://dx.doi.org/10.1155/2022/7364286
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author Puvabanditsin, Surasak
Shim, Miry
Suell, Jeffrey
Manzano, Jeffrey
Blackledge, Kristin
Bursky-Tammam, Avram
Mehta, Rajeev
author_facet Puvabanditsin, Surasak
Shim, Miry
Suell, Jeffrey
Manzano, Jeffrey
Blackledge, Kristin
Bursky-Tammam, Avram
Mehta, Rajeev
author_sort Puvabanditsin, Surasak
collection PubMed
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.
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spelling pubmed-88605672022-02-22 Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion Puvabanditsin, Surasak Shim, Miry Suell, Jeffrey Manzano, Jeffrey Blackledge, Kristin Bursky-Tammam, Avram Mehta, Rajeev Case Rep Urol Case Report 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. Hindawi 2022-02-14 /pmc/articles/PMC8860567/ /pubmed/35198258 http://dx.doi.org/10.1155/2022/7364286 Text en Copyright © 2022 Surasak Puvabanditsin 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
Puvabanditsin, Surasak
Shim, Miry
Suell, Jeffrey
Manzano, Jeffrey
Blackledge, Kristin
Bursky-Tammam, Avram
Mehta, Rajeev
Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860567/
https://www.ncbi.nlm.nih.gov/pubmed/35198258
http://dx.doi.org/10.1155/2022/7364286
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