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monosomy 13q34 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monosomy 13q34

MONDO:0019902

Also known as:Del(13)(q34)distal deletion 13q34monosomy type 13q34

Overview

Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.

ResearchLimited published research (3 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 13q34.

3 publications have been identified in PubMed for monosomy 13q34. Research spans Case Report / Case Series (100%).

Recent Publications

Fowler TE (2025). [PMID: 40778601](https://pubmed.ncbi.nlm.nih.gov/40778601/). *Birth Defects Res*. [Case Report / Case Series]
Chang YL (2025). [PMID: 39794023](https://pubmed.ncbi.nlm.nih.gov/39794023/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Rivera Troia F (2024). [PMID: 39087203](https://pubmed.ncbi.nlm.nih.gov/39087203/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96168

GARD

Genetic and Rare Diseases Info Center

GARD:16847

Questions for Your Care Team

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monosomy 13q34

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team