Dup15q Syndrome

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

Disease overview

Clinically identifiable syndrome which results from duplications of the portion of 15q11.2-13.1 chromosome

Common symptoms

HypotoniaASDfeeding difficultiesfine motor delaysspeech delayintellectula disability

WHEN TO SUSPECT

  • Recommendation 1

    Genomic testing methods that determine the copy number of sequences can include chromosomal microarray analysis (CMA) or targeted duplication analysis

HOW TO TEST

  • Recommendation 1

    Genomic testing methods that determine the copy number of sequences can include chromosomal microarray analysis (CMA) or targeted duplication analysis

TREATMENT

  • Recommendation 1

    Supportive Therapy Only

PRIMARY CARE

  • Recommendation 1

    Specialist referrals and supportive therapy

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 currently recruiting

Sources

No data available

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