Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion.
Surasak PuvabanditsinMiry ShimJeffrey SuellJeffrey ManzanoKristin BlackledgeAvram Bursky-TammamRajeev MehtaPublished in: Case reports in urology (2022)
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.