Primary care
Recommendation 1
Those with developmental delays, cognitive disability, and/or behavioral issues should be evaluated by a psychologist/psychiatrist.
17q23.1q23.2 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
Condition caused by a small deletion of genetic material from chromosome 17 encompassing bands 23.1 to 23.2 on the long arm of the chromosome.
Common symptoms
Mental developmental delays and structural abnormalities: Long fingersLong toeFrontal bossingIntrauterine growth retardationMicrocephalyPatent ductus arteriosusPulmonary arterial hypertensionshort stature
When to suspect
Recommendation 1
The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization
How to test
Recommendation 1
The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization
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 Treatment Only
Further support
Recommendation 1
TBX4 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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