Living with Xq27.3q28 duplication syndrome
A rare chromosome condition with short stature, low sex hormone activity, developmental delay and distinct facial features.
Understanding Xq27.3q28 duplication syndrome
People have short stature, hypogonadism (reduced activity of the testes or ovaries), developmental delay and differences in facial features. Other listed features include low muscle tone, mild intellectual disability and growth delay before birth. Onset is in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Global developmental delay
- Mild intellectual disability
- Low muscle tone (hypotonia)
- Hypogonadism with small testes
- Poor weight gain (failure to thrive)
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
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: chromosome xq27.3-q28 duplication syndrome; chromosome xq27.3-q28 duplication syndrome, x-linked recessive; dup(x)(q27.3q28); trisomy xq27.3-q28; trisomy xq27.3q28; xq27.3-q28 microduplication syndrome
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 Xq27.3q28 duplication syndrome.
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