Trisomy X

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

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].

Common symptoms

Most patients have intellectual disability/developmental delays (languageespecially) as well as small birth weight with rapid growth to tall staturehypotoniaand clinodactyly (abnormal pinky finger curvature) [ ].

WHEN TO SUSPECT

  • Recommendation 1

    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].

HOW TO TEST

  • Recommendation 1

    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

  • Recommendation 1

    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

  • Recommendation 2

    "wait and see" approaches are not recommended [more]. Children should be screened for renal and cardiac abnormalities in childhood [more].

PRIMARY CARE

  • Recommendation 1

    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].

FURTHER SUPPORT

  • Recommendation 1

    Genetic counseling is recommended for all families with a diagnosis of Trisomy X

  • Recommendation 2

    patients should seek care from a large academic institution with a clinic that specifically caters to Trisomy X

  • Recommendation 3

    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

  • Recommendation 1

    Two studies are currently recruiting.

Sources

No data available

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