Living with Chromosome 1q deletion
A missing piece of the long arm of chromosome 1 that can cause delays, learning differences, behavior problems, and distinct facial features.
Understanding Chromosome 1q deletion
How severe it is depends on the size and location of the deletion and which genes are involved. Most cases are not inherited, but people can pass the deletion to their children.
Signs & symptoms
Symptoms vary from person to person. GARD says they may include:
- Developmental delay
- Intellectual disability
- Behavior problems
- Distinct facial features
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
GARD says it occurs when genetic material on the long arm of chromosome 1 is missing. Most cases are not inherited, but a person can pass it on.
Also known as: partial deletion of chromosome 1q; partial deletion of the long arm of chromosome 1; partial deletion of the long arm of chromosome type 1; partial monosomy of chromosome 1q; partial monosomy of the long arm of chromosome 1
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 Chromosome 1q deletion.
Explore research for Chromosome 1q deletion
Explore actively recruiting Chromosome 1q deletion studies with HealthSpark.
Find actively recruiting studies for Chromosome 1q deletion with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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