Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

partial duplication of the long arm of chromosome 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial duplication of the long arm of chromosome 7

MONDO:0016958

Also known as:partial duplication of chromosome 7qpartial duplication of the long arm of chromosome type 7partial trisomy of chromosome 7q

Overview

Chromosome 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.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for partial duplication of the long arm of chromosome 7.

10 publications have been identified in PubMed for partial duplication of the long arm of chromosome 7. Research spans Case Report / Case Series (60%), Basic Science / Preclinical (30%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Patient case studies	6	60%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262887

GARD

Genetic and Rare Diseases Info Center

GARD:5357

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

partial duplication of the long arm of chromosome 7

Overview

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications