17q12 deletion syndrome

Not yet reviewed

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.

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

    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

Clinical Trials

Sources

No data available

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