Primary care
Recommendation 1
Appropriate referral to specialists/therapy
22q11.2 duplication syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Autosomally dominantly inherited or random disorder used by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes.
Common symptoms
Intellectual or learning disabilitydevelopmental delayslow growthshort staturehypotoniacleft palatedepressed nasal ridgehypertelorism.
When to suspect
Recommendation 1
Cases are identified by a technique known as chromosomal microarray.
How to test
Recommendation 1
Cases are identified by a technique known as chromosomal microarray.
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 Treament Only
Further support
Recommendation 1
The International 22q11.2 Foundations suggests various clinicians and 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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