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chromosome 17q12 duplication syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

chromosome 17q12 duplication syndrome

MONDO:0013796

Also known as:17q12 microduplication syndromedup(17)(q12)trisomy 17q12

Find Clinical TrialsTrials

Overview

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (9 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 sometimes findings: Axial hypotonia, Facial hypotonia, Downslanted palpebral fissures, and Brachydactyly and others. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Facial hypotonia, Cleft soft palate, Triangular face

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

The 17q12 recurrent duplication should be suspected in individuals with the following:

Intellectual disability
Developmental delays
Seizures
Ocular anomalies and/or vision problems

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for chromosome 17q12 duplication syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with the 17q12 recurrent duplication, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with 17q12 Recurrent Duplication

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with 17q12 Recurrent Duplication

System/Concern

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for chromosome 17q12 duplication syndrome. Research spans Epidemiology / Natural History (56%), Case Report / Case Series (33%), and Diagnostic / Biomarker (11%).

Recent Publications

Zhuang J (2026). [PMID: 42181563](https://pubmed.ncbi.nlm.nih.gov/42181563/). *Front Pediatr*. [Epidemiology / Natural History]
Lu J (2026). [PMID: 41398988](https://pubmed.ncbi.nlm.nih.gov/41398988/). *Acta obstetricia et gynecologica Scandinavica*. [Epidemiology / Natural History]
Vivek K (2025). [PMID: 39987660](https://pubmed.ncbi.nlm.nih.gov/39987660/). *Early human development*. [Epidemiology / Natural History]
Zhang G (2025). [PMID: 39793343](https://pubmed.ncbi.nlm.nih.gov/39793343/). *European journal of obstetrics, gynecology, and reproductive biology*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614526

Orphanet

European rare disease database

Orphanet:261272

GARD

Genetic and Rare Diseases Info Center

GARD:13296

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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System/Concern	Evaluation	Comment
Constitutional	Growth assessment	—
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Neurobehavioral/
Psychiatric	Neuropsychiatric eval	In persons age 12 mos: screen for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD.
Neurologic	Neurologic eval	To incl brain MRI; Consider EEG if seizures are a concern. Gastrointestinal/
Feeding	Consultation w/gastroenterologist /or feeding team for GI concerns, suspected dysphagia, or feeding difficulties	—
Eyes	Ophthalmologic eval	To assess for vision, abnormal ocular movement, strabismus
Endocrine	Assess for growth issues, dehydration, signs/symptoms of diabetes or electrolyte disturbances.	—
Cardiovascular	Echocardiogram	—
Renal	Kidney ultrasound exam	Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of 17q12 recurrent duplication in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with 17q12 Recurrent Duplication Manifestation/Concern	Treatment	Considerations/Other
DD/ID	See .	Psychiatric/ behavioral disorders
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1
Poor weight gain/ Failure to thrive	Feeding therapy	Low threshold for clinical feeding eval /or radiographic swallowing study if clinical signs or symptoms of dysphagia
Abnormal vision /or strabismus	Standard treatment(s) as recommended by ophthalmologist	Community vision services through early intervention or school district
Central visual impairment	No specific treatment; early intervention to stimulate visual development	—
Endocrine	Treatment per endocrinologist	—
Cardiac anomalies	Treatment per cardiologist	—
Renal anomalies	Treatment per nephrologist	Family/Community

Kisho

chromosome 17q12 duplication syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

chromosome 17q12 duplication syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Establishing the Diagnosis

Differential Diagnosis

Therapies Under Investigation

Clinical Trials