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monosomy 21 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monosomy 21

MONDO:0018930

Also known as:21q deletion syndrome21q- syndromemonosomy type 21

Overview

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.

Diagnosis

Biomarker and diagnostic research for monosomy 21 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 monosomy 21.

17 publications have been identified in PubMed for monosomy 21. Research spans Case Report / Case Series (53%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (12%).

Research Type	Count	% of Total
Patient case studies	9	53%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 1:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:574

GARD

Genetic and Rare Diseases Info Center

GARD:10860

Questions for Your Care Team

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monosomy 21

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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