Living with Distal Xq28 microduplication syndrome
An X-linked condition that mostly affects boys and men, with learning, behavior, and mood differences, frequent infections, and distinct facial features.
Understanding Distal Xq28 microduplication syndrome
In males, the condition involves intellectual disability, behavior and mental health challenges, obesity, repeated infections, allergic conditions, and distinct facial features. Females usually have no symptoms or only mild ones, such as mild learning difficulties and facial differences. Signs show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Attention deficit hyperactivity disorder (ADHD)
- Autistic behavior
- Anxiety or depression
- Aggressive behavior
- Asthma and nosebleeds
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 describes this as an X-linked condition caused by changes in genes, specifically an extra copy (duplication) of a piece of the X chromosome. Males are usually more affected than females.
Also known as: distal dup(x)q(28); distal trisomy xq28; int22h1/int22h2 mediated-xq28 microduplication syndrome; xq28 microduplication
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 Xq28 microduplication syndrome.
Explore research for Distal Xq28 microduplication syndrome
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