Primary care
Recommendation 1
Routine treatment of ophthalmologic, cardiac, and neurologic findingsRecommendation 2
speech, occupational, and physical therapies as appropriate.
1q21.1 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
1q21.1 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm of chromosome 1 at position 21.1 is deleted
Common symptoms
Pyschiatric/Mental Finds (speech and motor delaysmild intellectual disabilityautism spectrum disordersanxiety and mood disordersschizophreniaattention deficit hyperactivity disorderseizuresand sleep disorders) or Physical Stucture Abnormalities (microcephalydistinctive facial featureseye abnormalitiesheartskeletonand urinary system)
When to suspect
Recommendation 1
Can be detected using chromosomal microarray analysis (CMA) using oligonucleotides or polymorphic DNA markers, and FISH analysis.
How to test
Recommendation 1
Can be detected using chromosomal microarray analysis (CMA) using oligonucleotides or polymorphic DNA markers, and FISH 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
Anti-seizure or antipsychotic 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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