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distal monosomy 1q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal monosomy 1q

MONDO:0018205

Also known as:distal deletion 1qdistal monosomy type 1qmonosomy 1qter

Overview

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

ResearchLimited published research (5 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: Short stature, Thin vermilion border, Microcephaly, and Epicanthus and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Intellectual disability, Seizure, Global developmental delay

Prognosis

Phenotype severity distribution: 15 very common features.

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 1q.

5 publications have been identified in PubMed for distal monosomy 1q. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Recent Publications

Nomura Y (2026). [PMID: 41370233](https://pubmed.ncbi.nlm.nih.gov/41370233/). *Hum Mol Genet*. [Basic Science / Preclinical]
Lu X (2025). [PMID: 40533444](https://pubmed.ncbi.nlm.nih.gov/40533444/). *Blood Cancer J*. [Review / Meta-Analysis]
Helbig J (2025). [PMID: 40152355](https://pubmed.ncbi.nlm.nih.gov/40152355/). *Am J Med Genet A*. [Review / Meta-Analysis]
Chun BM (2025). [PMID: 40377441](https://pubmed.ncbi.nlm.nih.gov/40377441/). *Oncologist*. [Case Report / Case Series]
Zhao J (2024). [PMID: 38684312](https://pubmed.ncbi.nlm.nih.gov/38684312/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:36367

GARD

Genetic and Rare Diseases Info Center

GARD:16640

Questions for Your Care Team

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distal monosomy 1q

Overview

Clinical Presentation

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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