Living with Chromosome 1q21.1 deletion syndrome
A small missing piece of chromosome 1 that raises the chance of delayed development and learning differences, though some people have no signs.
Understanding Chromosome 1q21.1 deletion syndrome
It raises the risk of delayed development, intellectual disability, physical differences, and neurological and psychiatric problems. About 75 percent of children have delayed development, mostly in motor skills. Learning problems are usually mild. Facial features are subtle. Some people with the deletion have no associated features. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability, usually mild
- Small head size (microcephaly)
- Prominent forehead
- Large, rounded nose tip
- High, arched palate
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 Simons Searchlight and other patient organizations
- 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 is caused by a small missing piece (deletion) of chromosome 1 at q21.1. It is listed as autosomal dominant.
Also known as: 1q21.1 contiguous gene deletion; 1q21.1 deletion; 1q21.1 microdeletion; 1q21.1 microdeletion syndrome; 1q21.1 recurrent microdeletion; 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)
Patient organizations
- Simons SearchlightChromosome 1q21.1 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 1q21.1 deletion syndrome.
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