Partial deletion of the long arm of chromosome 7
MONDO:0016906Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located 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 deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Also known as: partial deletion of chromosome 7q, partial deletion of the long arm of chromosome type 7, partial monosomy of chromosome 7q, partial monosomy of the long arm of chromosome 7, 7q deletion, 7q monosomy, del(7q), deletion 7q
19 clinical trials for this condition and its sub-types.
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Tiny blood sample, big clues: stem cell study aims to unlock williams syndrome brain mystery
Knowledge-focused Not yet recruitingThis study will collect blood from 3 children with Williams syndrome and 3 healthy children. Scientists will turn blood cells into stem cells and then into brain cells to study how the brain develops differently in Williams syndrome. The goal is to understand the disease better, …
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:09 UTC
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Brain study aims to crack social skill mysteries in rare disorders
Knowledge-focused Not yet recruitingThis study looks at how the brains of children with Williams syndrome and autism differ, focusing on social and thinking skills. Researchers will compare 75 children aged 3-12 from three groups: those with Williams syndrome, those with autism, and typically developing kids. No tr…
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC