Prune Belly Syndrome Associated with Interstitial 17q12 Microdeletion

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Urology

Background:

• Prune belly syndrome is a rare congenital disorder characterized by abdominal muscle deficiency, urinary tract anomalies, and cryptorchidism.
• The exact etiology of prune belly syndrome remains largely unknown, with genetic factors suspected but not fully elucidated.

Observation:

• A term male neonate presented with classic features of prune belly syndrome, including abdominal wall defect, bilateral hydronephrosis, hydroureter, posterior urethral obstruction, and bilateral undescended testes.
• Genetic analysis using whole genome single nucleotide polymorphism (SNP) microarray identified an interstitial deletion of approximately 1.49 megabase (MB) on chromosome 17q12.

Findings:

• The identified 17q12 deletion encompasses several genes potentially involved in genitourinary development and abdominal wall formation.
• This case represents a rare association between prune belly syndrome and a specific chromosomal deletion in the 17q12 region, suggesting a potential pathogenic mechanism.

Implications:

• This finding may contribute to understanding the genetic underpinnings of prune belly syndrome and associated anomalies.
• Further research into the genes within the 17q12 deletion region could reveal critical developmental pathways and inform genetic counseling for affected families.