Living with Trisomy X syndrome
A chromosome condition in girls and women with an extra X chromosome, often with few physical signs but possible learning or speech delays.
Understanding Trisomy X syndrome
Females may be taller than average, but it usually causes no unusual physical features. Most have typical sexual development and can have children. It is linked to a higher chance of learning disabilities and delayed speech and language. Delayed motor skills, low muscle tone, and behavior or emotional difficulties are possible. Seizures or kidney differences occur in about 10 percent.
Signs & symptoms
Symptoms vary widely. GARD lists these among the most common:
- Taller than average height
- Learning disability
- Delayed speech and language development
- Delayed motor skills, such as sitting and walking
- Low muscle tone (hypotonia) in infants
- Constipation or belly pain
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, hormone specialists, maternal-fetal medicine specialists and women’s reproductive health specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Association for X and Y Chromosome Variations and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- Expert care
- Expert lists: Association for X and Y Chromosome Variations, Resolve: The National Infertility Association
- 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 Association for X and Y Chromosome Variations 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
It is caused by an extra X chromosome in each of a female's cells (47,XXX).
Also known as: 47,xxx; 47,xxx syndrome; karyotype 47, xxx; triple x female; triple x syndrome; triplo x syndrome
Patient organizations
- Association for X and Y Chromosome VariationsTrisomy X syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with Trisomy X syndrome.
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