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medRxiv PreprintsInternational6 November 2026

The cognitive profile of the schizophrenia-associated 3q29 deletion syndrome and the reciprocal 3q29 duplication syndrome

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3q29 deletion syndrome (3q29del) and the reciprocal 3q29 duplication syndrome (3q29dup) are associated with a range of neuropsychiatric phenotypes, including impaired cognition. However, previous sample sizes have been small, and cognitive performance has not been systematically compared between 3q29del and 3q29dup. For both disorders, the impact of familial background on cognition is unknown. 3q29del is associated with high risk for schizophrenia; in the general population individuals at Clinical High Risk (CHR) for psychosis exhibit impaired cognition, but the relationship between CHR status
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