Primary care
Recommendation 1
Learning and communication deficits can be managed through various therapies
15q13.3 microduplication 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 or autosomal dominanat disorder caused by extra piece of genetic information long arm of chromosome 15 causing mental and physical development deficits.
Common symptoms
Mental deficits (Intellectual disabilitycommunication difficultiesbehavioral and psychiatric problemsautistic featuresemotional instabilityattention-deficit hyperactivity disorder (ADHD)schizophreniadifficulty sleeping) and physical deficits (feeding problemslow muscular toneseizurescleft palate (CHRNA7 gene duplication))
When to suspect
Recommendation 1
Physical exam findings (feeding problems, developmental delay, intellectual disability, or behavioral problems) plus genetic testing using chromosomal microarray (CMA) to confirm diagnosis
How to test
Recommendation 1
Physical exam findings (feeding problems, developmental delay, intellectual disability, or behavioral problems) plus genetic testing using chromosomal microarray (CMA) to confirm 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
Epilepsy is treated with anti-seizure medication (ASM).
Further support
Recommendation 1
Dup15q Alliance recommends multiple clinics which can be found here. 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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