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Mild intellectual deficits in a child with 49,XXXXY
Research in Developmental Disabilities
|January 1, 1988
Summary
Males with 49,XXXXY syndrome typically have severe intellectual disability. However, this case shows mild delays and normal adaptive skills, suggesting potential variability in cognitive outcomes for 49,XXXXY individuals.
Area of Science:
- Genetics
- Human Biology
- Developmental Pediatrics
Background:
- The 49,XXXXY karyotype is a rare sex chromosome abnormality in males.
- It is typically associated with severe mental retardation and developmental delays.
- Some cases report mild intellectual functioning or normal development initially.