Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion

Autor: Puvabanditsin, Surasak, Shim, Miry, Suell, Jeffrey, Manzano, Jeffrey, Blackledge, Kristin, Bursky-Tammam, Avram, Mehta, Rajeev
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Case Reports in Urology.
ISSN: 2090-696X
DOI: 10.1155/2022/7364286
Popis: 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.
Databáze: OpenAIRE
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