Living with Distal monosomy 1q
A rare chromosome condition with learning disability, seizures, a small head, and differences in the heart and other body systems.
Understanding Distal monosomy 1q
People with this condition may have intellectual disability, slow growth, seizures, and a head that grows slowly (progressive microcephaly). Distinct facial features are common. There can also be differences along the body's midline, such as in the heart, the brain's corpus callosum, the digestive tract, and the urinary and genital systems. Signs begin in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Seizures
- Intellectual disability
- Delays in overall development
- Short height
- Underdeveloped corpus callosum (part of the brain)
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 changes in a person's genes cause this condition. The summary describes it as a partial loss of the long arm of chromosome 1.
Also known as: distal deletion 1q; distal monosomy 1q syndrome; distal monosomy type 1q; monosomy 1qter; telomeric deletion 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 Distal monosomy 1q.
Explore research for Distal monosomy 1q
Explore actively recruiting Distal monosomy 1q studies with HealthSpark.
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- 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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