7q11.23 duplication 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

Random mutation and autsomal dominant disorder caused by duplicated genetic material from chromosome 7.

Common symptoms

Motorspeech and language delaybehavior problemsintellectual disabilityhypotoniamacrocephalyfacial dysmorphismseizuresbrain abnormalitiesand aortic dilatation

When to suspect

  • Recommendation 1

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

How to test

  • Recommendation 1

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

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

    Seizures treated with ASM

Primary care

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

Interested in learning more about 7q11.23 duplication syndrome?

Follow to receive regular updates to the latest research development on this disease via email newsletter.