Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion.
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ABSTRACT:
SUBMITTER: Puvabanditsin S
PROVIDER: S-EPMC8860567 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Publications
Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion.
Puvabanditsin Surasak S Shim Miry M Suell Jeffrey J Manzano Jeffrey J Blackledge Kristin K Bursky-Tammam Avram A Mehta Rajeev R
Case reports in urology 20220214
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. ...[more]
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