Living with Xq12-q13.3 duplication syndrome
A rare chromosome condition with developmental delay, autistic behavior and a small head, and sometimes seizures.
Understanding Xq12-q13.3 duplication syndrome
It is marked by global developmental delay, autistic behavior, a small head (microcephaly) and distinct facial features. These include downslanting eyelid openings, a flat nasal bridge, upturned nostrils and a long space between nose and lip. Some people have seizures. Onset is in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- Autistic behavior
- Small head size (microcephaly)
- Seizures with sudden jerks (myoclonic)
- Differences in 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 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 Organization for Autism Research 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 describes this as an extra copy (duplication) of part of the X chromosome. It is inherited in an X-linked way.
Also known as: dup(x)(q12-q13.3)
Patient organizations
- Organization for Autism ResearchXq12-q13.3 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Xq12-q13.3 duplication syndrome.
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