{"title":"西梅肚综合征与间质17q12微缺失相关。","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":"{\"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}","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}
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 present a rare association of prune belly syndrome with a chromosomal deletion in this same region.
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