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Case highlights the connection between ambiguous genitalia and cardiac defects in neonates, suggesting the need for thorough evaluations.
Neonatal 48,XXYY syndrome can present with both ambiguous genitalia and Tetralogy of Fallot, a striking and previously unreported association. This case broadens the phenotypic spectrum and underscores the importance of integrating genetic and cardiac evaluation in all neonates with disorders of sex development.
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Nour Gazzaz (2026) studied this question.
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