Primary care
Recommendation 1
Therapy, and sometimes surgical interventions can be used for long term management
1q duplications
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Inherited or random 1q duplications are chromosome abnormalies that occurs when there is an extra copy of genetic material on the long arm of chromosome 1.
Common symptoms
Featuresw of autism spectrum disorder including expressive and receptive language skillsdevelopmental delaylearning disabilitiesslow growth and/or short staturecleft palateheart defectand smallreceding jaw.
When to suspect
Recommendation 1
Karotying and FISH used for diagnosis
How to test
Recommendation 1
Karotying and FISH used for diagnosis
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 therapy only
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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