17q12 duplication

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

Disease overview

Autosomal dominant or random mutation in which there is a extra copy of genetic material on the long arm of chromosome 17

Common symptoms

Symptoms including intellectual disabilitydevelopmental delaybehavioral challenges.vision problems and sometimes problems with the heart or kidneys

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis

HOW TO TEST

  • Recommendation 1

    Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

PRIMARY CARE

  • Recommendation 1

    Those with developmental delays, cognitive disability, and/or behavioral issues should be evaluated by a psychologist/psychiatrist. Individuals with vision, endocrine, cardiac, and/or renal abnormalities should be managed by the appropriate specialist

FURTHER SUPPORT

  • Recommendation 1

    No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    One clinical study going on now, register here

Sources

No data available

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