Living with Chromosome Xp11.23-p11.22 duplication syndrome
An extra piece of the X chromosome seen in males and females, linked to delayed speech, learning difficulty, and early puberty.
Understanding Chromosome Xp11.23-p11.22 duplication syndrome
It can be inherited in families or occur as a new change. GARD lists onset in the newborn period and infancy. Listed features include delayed speech, intellectual disability, and early puberty.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Intellectual disability
- Early puberty
- Nasal or hoarse voice
- Flat or high-arched feet
- Fused toes
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, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 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 (duplication) of a piece of the X chromosome at p11.23-p11.22. It can be inherited in families or occur as a new change.
Also known as: chromosome xp11.23-p11.22 duplication syndrome, x-linked dominant; dup(x)(p11.22p11.23); microduplication xp11.22-p11.23 syndrome; microduplication xp11.22p11.23 syndrome; trisomy xp11.22-p11.23; trisomy xp11.22p11.23
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome Xp11.23-p11.22 duplication syndrome.
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