Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion
Author(s) -
Surasak Puvabanditsin,
Miry Shim,
Jeffrey Suell,
Jeffrey Manzano,
Kristin Blackledge,
Avram Bursky-Tammam,
Rajeev Mehta
Publication year - 2022
Publication title -
case reports in urology
Language(s) - English
Resource type - Journals
eISSN - 2090-696X
pISSN - 2090-6978
DOI - 10.1155/2022/7364286
Subject(s) - medicine
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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