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Last Updated: 8 August 2024

49,XXXXY Syndrome

49,XXXXY syndrome is a rare chromosomal disorder affecting males, characterised by the presence of three extra X chromosomes. It results in intellectual disabilities, developmental delays, and physical abnormalities. Individuals with 49,XXXXY syndrome often exhibit distinctive facial features, skeletal anomalies, and reduced fertility. Early intervention can improve quality of life for those affected.

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