Case report: novel copy number variant 16p11.2 duplication associated with prune belly syndrome.

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This case report describes the first known child with prune belly syndrome who also had a 16p11.2 duplication, suggesting that in rare cases this genetic change may contribute to congenital kidney, urinary tract, and muscle differences, which families and doctors can use to support thorough medical evaluation and coordinated care when unusual physical findings are present.