Primary care
Recommendation 1
Surgeries and appropriate specialist/therapist referrals
3q29 microdeletion syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Random (non-inhertied) disorder caused by the loss of a small piece of DNA in one copy of chromosome 3
Common symptoms
Delay reaching developmental milestones such as sittingwalking or talkingfrequent ear and respiratory infectionsmicrocephalycleft lip/palateautism
When to suspect
Recommendation 1
3q29 deletions are identified by chromosomal microarray (CMA) analysis.
How to test
Recommendation 1
3q29 deletions are identified by chromosomal microarray (CMA) 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
Surgeries to repair any physical abnormalities, speech therapy, behavior therapy and special education.
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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