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partial deletion of the long arm of chromosome 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of the long arm of chromosome 6

MONDO:0016905

Also known as:partial deletion of chromosome 6qpartial deletion of the long arm of chromosome type 6partial monosomy of chromosome 6q

Overview

Chromosome 6q 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 6. 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 6q deletion include developmental delay, intellectual disability, 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.

OnsetANTENATAL

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 deletion of the long arm of chromosome 6.

15 publications have been identified in PubMed for partial deletion of the long arm of chromosome 6. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (27%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Laboratory research	5	33%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262047

GARD

Genetic and Rare Diseases Info Center

GARD:3760

Questions for Your Care Team

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partial deletion of the long arm of chromosome 6

Overview

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications