Living with Partial duplication of the long arm of chromosome X
A chromosome change with an extra piece of the X chromosome, affecting males more than females.
Understanding Partial duplication of the long arm of chromosome X
People have an extra copy of genetic material on the long arm (q) of the X chromosome. Males are usually more affected, often with intellectual disability, developmental delay, short height, and reproductive organ differences. Many females have no symptoms or only short height, though some are as affected as males. Treatment is based on each person's signs and symptoms.
Signs & symptoms
GARD doesn't list specific symptoms, but the summary describes:
- Intellectual disability
- Developmental delay
- Short stature
- Differences in the reproductive organs
- Distinctive 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 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 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
An extra copy of genetic material on the long arm of the X chromosome causes this condition. Most cases are inherited in an X-linked way, often from a mother with no signs.
Also known as: partial duplication of chromosome xq; partial duplication of the long arm of chromosome type x; partial trisomy of chromosome xq; partial trisomy of chromosome xq; partial trisomy of the long arm of chromosome x
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 Partial duplication of the long arm of chromosome X.
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