17q12 deletion syndrome

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 small missing piece of genetic material on the long arm of chromosome 17

Common symptoms

Autism/intellectual disability and physical structure abnormalities: Multicystic kidney dysplasiaShort statureCerebral atrophy

WHEN TO SUSPECT

  • Recommendation 1

    FISH analysis, quantitative PCR (qPCR), multiplex ligation-dependent probe amplification (MLPA), or other targeted quantitative methods may be used to test for 17q12 recurrent deletion.

HOW TO TEST

  • Recommendation 1

    FISH analysis, quantitative PCR (qPCR), multiplex ligation-dependent probe amplification (MLPA), or other targeted quantitative methods may be used to test for 17q12 recurrent deletion.

TREATMENT

  • Recommendation 1

    Supportive Treatment Only

PRIMARY CARE

  • Recommendation 1

    Surgery/transplant can be used for kidney abnormalities and dysfunction

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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