15q13.3 microduplication syndrome

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Disease overview

Random or autosomal dominanat disorder caused by extra piece of genetic information long arm of chromosome 15 causing mental and physical development deficits.

Common symptoms

Mental deficits (Intellectual disabilitycommunication difficultiesbehavioral and psychiatric problemsautistic featuresemotional instabilityattention-deficit hyperactivity disorder (ADHD)schizophreniadifficulty sleeping) and physical deficits (feeding problemslow muscular toneseizurescleft palate (CHRNA7 gene duplication))

WHEN TO SUSPECT

  • Recommendation 1

    Physical exam findings (feeding problems, developmental delay, intellectual disability, or behavioral problems) plus genetic testing using chromosomal microarray (CMA) to confirm diagnosis

HOW TO TEST

  • Recommendation 1

    Physical exam findings (feeding problems, developmental delay, intellectual disability, or behavioral problems) plus genetic testing using chromosomal microarray (CMA) to confirm diagnosis

TREATMENT

  • Recommendation 1

    Epilepsy is treated with anti-seizure medication (ASM).

PRIMARY CARE

  • Recommendation 1

    Learning and communication deficits can be managed through various therapies

FURTHER SUPPORT

  • Recommendation 1

    Dup15q Alliance recommends multiple clinics which can be found here. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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