Article

Natural History of Prenatally Identified Children with 48,XXYY Syndrome in Infancy and Early Childhood

2026-06-04

Abstract excerpt

<h4>Background</h4> 48,XXYY syndrome is a rare sex chromosome aneuploidy (SCA) characterized by neurodevelopmental deficits and medical comorbidities. The limited information available in the literature is almost exclusively limited to postnatally diagnosed cases. This study aims to describe the early medical and developmental features of prenatally identified 48,XXYY infants, with comparisons to 47,XYY, 47,XXY c...

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Literature Corpus work: 23ecbfc6-884f-56c7-b669-fd22093bc70d
DOI: 10.64898/2026.06.04.26353909

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