Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome

Overview

Journal Front Pediatr

Specialty Pediatrics

Date 2021 Oct 11

PMID 34631626

Authors

Sriharsha Talluri

Michael A Goedde

Eran Rosenberg

Katie L Canalichio

Dennis Peppas

Jeffrey T White

Affiliations

Soon will be listed here.

Abstract

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.

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