{"title":"Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion.","authors":"Surasak Puvabanditsin, Miry Shim, Jeffrey Suell, Jeffrey Manzano, Kristin Blackledge, Avram Bursky-Tammam, Rajeev Mehta","doi":"10.1155/2022/7364286","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":30323,"journal":{"name":"Case Reports in Urology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860567/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Urology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2022/7364286","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
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.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
