15q11.2 microdeletion

Not yet reviewed

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

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

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

Clinical Trials

Sources

No data available

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