Living with Chromosome Xq28 duplication syndrome
A rare genetic condition from an extra piece of the X chromosome, with intellectual disability and behavior differences, more severe in males.
Understanding Chromosome Xq28 duplication syndrome
Cognitive impairment is typically more severe in males, and most males have moderate to severe intellectual disability. Males may also have repeated sinus and lung infections and allergies. Females may have milder symptoms or none. Most people inherit the duplication from their mother, who is often symptom-free, though new duplications have been found.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes these features:
- Intellectual disability
- Behavior and neurodevelopmental differences
- Distinct facial features
- Repeated sinus and lung infections (males)
- Allergies (males)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 an extra copy of a region of the X chromosome and is inherited in an X-linked pattern. Most people inherit it from a mother who often has no symptoms, and some cases are new.
Also known as: xq28 duplication syndrome, int22h1/int22h2-mediated; xq28 recurrent microduplication syndrome
Patient organizations
- Simons SearchlightChromosome Xq28 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome Xq28 duplication syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome Xq28 duplication syndrome.
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