1q21 Duplication Carriers

published by simonsvipconnect

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In order to measure the medical and psychiatric differences in 1q21.1 duplication carriers, families participating in the Simons VIP study worked with researchers by providing medical and family history  information. Participants with the 1q21.1  duplication, and their non-carrier family members, completed assessments that included specific tests for IQ, memory, behavior, motor skills, and neurological function. Participants were also evaluated for any psychiatric and features of autism.
1q21.1 Duplication Carriers
People with 1q21.1 deletion tend to have trouble with making particular sounds or processing certain words (articulation differences or phonological processing).
Nearly half of the individuals with 1q21.1 duplication were diagnosed with Autism Spectrum Disorder. About a quarter had ADHD.
Frequency of Medical Concern