Living with Trisomy 1q
A rare chromosome condition with a partial extra copy of chromosome 1 that can affect learning, growth, and organs.
Understanding Trisomy 1q
It varies a lot between people. Main features are intellectual disability, short stature, differences in the face and head, heart defects, and urinary and genital differences. Brain and digestive differences, tremor with abnormal muscle tension, and repeated respiratory infections can also occur. It starts during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Short stature
- Differences in the face, such as a prominent forehead and low-set ears
- Small lower jaw (micro-retrognathia)
- Kidney differences (multicystic kidney dysplasia)
- Enlarged brain fluid spaces (ventriculomegaly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by a partial duplication of the long arm of chromosome 1.
Also known as: duplication 1q; trisomy 1q syndrome; trisomy type 1q
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Trisomy 1q.
Explore research for Trisomy 1q
Explore actively recruiting Trisomy 1q studies with HealthSpark.
Find actively recruiting studies for Trisomy 1q with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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