15q11.2 microdeletion

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

Disease overview

Random or inherited disorder caused by deletion of a piece of genetic material on long arm of chromosome 15 causing mental and physical development deficits.

Common symptoms

Mental development deficits (behavior and emotional problemsattention deficit disordersautism spectrum disorderschizophrenia) and physical development deficits (motor delayseizuremild dysmorphic features)

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing (FISH) or microarrys

HOW TO TEST

  • Recommendation 1

    Genetic testing (FISH) or microarrys

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

PRIMARY CARE

  • Recommendation 1

    Therapy for mental and developmental concerns

FURTHER SUPPORT

  • Recommendation 1

    No specific phsician is specializing in this condition, NORD recommends various Centers for Rare Diseases. 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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