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3q29 Recurrent Deletion; Mulle et al., 2016.

This comprehensive review article describes the known phenotypic effects of the 3q29 deletion, including the developmental, psychiatric, and medical symptoms observed in individuals with 3q29 deletion. The 3q29 deletion characterized by neurodevelopmental and/or psychiatric manifestations including mild-to-moderate intellectual disability, autism spectrum disorder, anxiety disorders, attention-deficit/hyperactivity disorder (ADHD), executive function deficits, graphomotor weakness, and psychosis/schizophrenia. Age at onset for psychosis or prodrome can be younger than the typical age at onset in the general population.

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New Phenotypes Associated with 3q29 Duplication Syndrome: Results from the 3q29 Registry; Pollak et al., 2020.

The 3q29 duplication syndrome is a rare genomic disorder caused by the duplication of 1.6 million basepairs of DNA. In this study, we used questionnaires and behavioral assessments to investigate the physical, developmental, and social phenotypes of 31 individuals with 3q29 duplication syndrome, the largest cohort ever surveyed in a systematic way. Participants with the 3q29 duplication report a high rate of problems in the first year of life (80.6%), including feeding problems (55%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (71.0%) and seizures (25.8%) are common. Additionally, the rate of self-reported autism spectrum disorder diagnoses (39%) is substantially elevated compared to the general population, suggesting that the 3q29 duplication may be an autism susceptibility locus.

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NIH Genetic and Rare Diseases Information Center

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