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partial deletion of the long arm of chromosome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of the long arm of chromosome 4

MONDO:0016903

Also known as:partial deletion of chromosome 4qpartial deletion of the long arm of chromosome type 4partial monosomy of chromosome 4q

Overview

Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion 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 deletion of the long arm of chromosome 4.

10 publications have been identified in PubMed for partial deletion of the long arm of chromosome 4. Research spans Case Report / Case Series (70%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	7	70%

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262029

GARD

Genetic and Rare Diseases Info Center

GARD:1340

Questions for Your Care Team

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partial deletion of the long arm of chromosome 4

Overview

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications