A Rare Neonatal Case of 48, XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot

Key Points

• To report a unique case of 48,XXYY syndrome with ambiguous genitalia and Tetralogy of Fallot.
• Case report of a neonate with 48,XXYY syndrome
• Genetic and cardiac evaluations performed
• Phenotypic assessment conducted
• Reported association of 48,XXYY syndrome, ambiguous genitalia, and Tetralogy of Fallot
• Broadens understanding of phenotypic spectrum
• Emphasizes need for integrated evaluations in affected neonates