PSEUDOTRISOMY 18
Introduction and Definition of Pseudotrisomy 18 Pseudotrisomy 18 describes a rare and severe congenital disorder characterized by a constellation of complex clinical features that are virtually indistinguishable from those observed in true Trisomy 18 (Edwards Syndrome). The designation ‘pseudo’ is critical, as it signifies that the affected individuals exhibit the full phenotypic spectrum of Trisomy […]