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partial deletion of the short arm of chromosome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of the short arm of chromosome 1

MONDO:0016883

Also known as:partial deletion of chromosome 1ppartial deletion of the short arm of chromosome type 1partial monosomy of chromosome 1p

Overview

Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. 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 1p 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.

OnsetCONGENITAL, INFANTILE

Diagnosis

Biomarker and diagnostic research for partial deletion of the short arm of chromosome 1 has been reported in the published literature.

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 short arm of chromosome 1.

56 publications have been identified in PubMed for partial deletion of the short arm of chromosome 1. Research spans Diagnostic / Biomarker (30%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Testing and diagnosis research	17	30%

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 6:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261857

GARD

Genetic and Rare Diseases Info Center

GARD:3730

Questions for Your Care Team

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partial deletion of the short arm of chromosome 1

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications