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distal monosomy 17q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal monosomy 17q

MONDO:0015562

Also known as:distal 17q deletiondistal monosomy type 17qmonosomy 17qter

Overview

Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Narrow mouth, Microcephaly, Abnormality of the philtrum, and Hypertelorism and others.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Deviation of finger, Upper limb asymmetry, Small hand

Diagnosis

Biomarker and diagnostic research for distal monosomy 17q has been reported in the published literature.

Prognosis

Phenotype severity distribution: 31 very common features.

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 distal monosomy 17q.

3 publications have been identified in PubMed for distal monosomy 17q. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Lu J (2025). [PMID: 40008001](https://pubmed.ncbi.nlm.nih.gov/40008001/). *Frontiers in oncology*. [Basic Science / Preclinical]
Smith AC (2025). [PMID: 40629455](https://pubmed.ncbi.nlm.nih.gov/40629455/). *Molecular cytogenetics*. [Diagnostic / Biomarker]
Zheng H (2024). [PMID: 39619310](https://pubmed.ncbi.nlm.nih.gov/39619310/). *Clinical case reports*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1597

GARD

Genetic and Rare Diseases Info Center

GARD:10972

Questions for Your Care Team

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distal monosomy 17q

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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