AI Article Synopsis
- Microduplications of the X chromosome are a rare cause of X-linked intellectual disability, which varies widely in clinical and genetic presentation.
- A 950-kb microduplication at the Xp22.12 region was found in a family where affected members, including a male proband, his mother, and uncle, showed signs of intellectual disability.
- Four female carriers, despite not showing full intellectual disability, experienced major depression, indicating that these microduplications might be linked to neuropsychiatric conditions.
Article Abstract
Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression and one of them also had mild intellectual disability. The present and previous cases with overlapping microduplications suggest that Xp22.12 microduplications can be included in the neuropsychiatric copy number variations.
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