Partial duplication of the long arm of chromosome 7
MONDO:0016958Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
Also known as: partial duplication of chromosome 7q, partial duplication of the long arm of chromosome type 7, partial trisomy of chromosome 7q, partial trisomy of the long arm of chromosome 7, 7q duplication, 7q trisomy, Duplication 7q, chromosome 7q duplication
5 clinical trials for this condition and its sub-types.
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NIH launches study to map brain changes in kids with rare genetic disorders
Knowledge-focused Recruiting nowThis study aims to understand how the brain develops in children with Williams syndrome or 7q11.23 duplication syndrome, compared to healthy children. Researchers will use MRI scans and cognitive tests to track changes over time. The goal is to learn how these genetic variations …
Sponsor: National Institute of Mental Health (NIMH) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Massive study aims to unlock the mysteries of williams syndrome
Knowledge-focused Recruiting nowThis observational study follows up to 2,000 people with Williams syndrome or related chromosome changes, along with their family members. Researchers will track health, development, behavior, and quality of life from childhood through adulthood. They are also building a biobank …
Sponsor: University of Pennsylvania • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:04 UTC