Primary care
Recommendation 1
Therapy and follow up with specialists as needed
1q44 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
1q44 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm of chromosome 1 at position 44 is deleted.
Common symptoms
Facial dysmorphismdevelopmental delayin particular of expressive speechseizures and hypotonia.
When to suspect
Recommendation 1
Chromosome Microarray, Whole-Exome Sequencing, Cap CNV Analysis, Sybergreen Fluorescent Quantitative PCR
How to test
Recommendation 1
Chromosome Microarray, Whole-Exome Sequencing, Cap CNV Analysis, Sybergreen Fluorescent Quantitative PCR
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
Anti-seizure medication as needed
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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