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trisomy 1q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trisomy 1q

MONDO:0016847

Also known as:Duplication 1qtrisomy type 1q

Overview

Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.

ResearchLimited published research (9 articles)

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 trisomy 1q.

9 publications have been identified in PubMed for trisomy 1q. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (44%), and Epidemiology / Natural History (11%).

Recent Publications

Nomura Y (2026). [PMID: 41370233](https://pubmed.ncbi.nlm.nih.gov/41370233/). *Human molecular genetics*. [Basic Science / Preclinical]
Hudac CM (2026). [PMID: 42156006](https://pubmed.ncbi.nlm.nih.gov/42156006/). *Pediatrics*. [Case Report / Case Series]
Kuang ZL (2026). [PMID: 41663181](https://pubmed.ncbi.nlm.nih.gov/41663181/). *Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi*. [Epidemiology / Natural History]
Maura F (2025). [PMID: 40835892](https://pubmed.ncbi.nlm.nih.gov/40835892/). *Nature genetics*. [Case Report / Case Series]
Goyal M (2025). [PMID: 40453195](https://pubmed.ncbi.nlm.nih.gov/40453195/). *Case reports in perinatal medicine*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261344

GARD

Genetic and Rare Diseases Info Center

GARD:20781

Questions for Your Care Team

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trisomy 1q

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team