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chromosome 16p11.2 duplication syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 16p11.2 duplication syndrome

MONDO:0013847

Also known as:proximal 16p11.2 microduplication syndromeproximal dup(16)(p11.2)proximal trisomy 16p11.2

Overview

Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.

GeneticsAutosomal dominant

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 always present findings: Delayed speech and language development and Intellectual disability; and common findings: Microcephaly, Short stature, Seizure, and Deeply set eye and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Microcephaly, Flat face, Thin upper lip vermilion

Diagnosis

Biomarker and diagnostic research for chromosome 16p11.2 duplication syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 15 common features.

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 chromosome 16p11.2 duplication syndrome.

5 publications have been identified in PubMed for chromosome 16p11.2 duplication syndrome. Research spans Epidemiology / Natural History (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Kikas T (2026). [PMID: 41338233](https://pubmed.ncbi.nlm.nih.gov/41338233/). *Human reproduction (Oxford, England)*. [Epidemiology / Natural History]
Zhuang J (2025). [PMID: 40684108](https://pubmed.ncbi.nlm.nih.gov/40684108/). *BMC pregnancy and childbirth*. [Diagnostic / Biomarker]
Elsayed LEO (2024). [PMID: 39232803](https://pubmed.ncbi.nlm.nih.gov/39232803/). *Human genomics*. [Review / Meta-Analysis]
Leone R (2024). [PMID: 38948459](https://pubmed.ncbi.nlm.nih.gov/38948459/). *Frontiers in pharmacology*. [Basic Science / Preclinical]
Vos N (2024). [PMID: 38605127](https://pubmed.ncbi.nlm.nih.gov/38605127/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614671

Orphanet

European rare disease database

Orphanet:370079

GARD

Genetic and Rare Diseases Info Center

GARD:12388

Questions for Your Care Team

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chromosome 16p11.2 duplication syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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