Highlight text to provide feedback
| Disease found: | Trisomy X |
| Current as of: | October 8, 2024 |
| Disease Overview: | Presence of an extra X chromosome in females, with varying severity of symptoms, more common with advanced maternal age (as with other nondisjunction disorders) [more]. |
| Signs and Symptoms: | Most patients have intellectual disability/developmental delays (language, especially) as well as small birth weight with rapid growth to tall stature, hypotonia, and clinodactyly (abnormal pinky finger curvature) [more]. |
| Diagnosis: | Trisomy X is increasingly diagnosed prenatally on chromosomal non-invasive prenatal testing using cell-free fetal DNA [more]. Amniocentesis or chorionic villus sampling are used to confirm a positive screen [more]. FISH in the affected child is recommended for confirmation of prenatal diagnosis after birth and to assess for mosaicism [more]. |
| Treatment: | There are no disease-specific treatments, but multidisciplinary early intervention with developmental assessments can help identify language, motor, and social deficits early so supportive interventions can begin. Outcomes are better with earlier intervention for Trisomy X; "wait and see" approaches are not recommended [more]. Children should be screened for renal and cardiac abnormalities in childhood [more]. |
| Clinical Management: | Many children benefit from age-appropriate psychological support and counseling, as well as repeated developmental assessments as they grow to identify changing needs [more]. Patients may be at risk for premature ovarian insufficiency [more]. |
| Referral: | Genetic counseling is recommended for all families with a diagnosis of Trisomy X; patients should seek care from a large academic institution with a clinic that specifically caters to Trisomy X; a list of such hospitals can be found here. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Two studies are currently recruiting. |