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| Disease found: | 17q12 duplication |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal dominant or random mutation in which there is a extra copy of genetic material on the long arm of chromosome 17 [more info] |
| Signs and Symptoms: | Symptoms including intellectual disability, developmental delay, behavioral challenges., vision problems and sometimes problems with the heart or kidneys [more info] |
| Diagnosis: | Genetic testing using chromosomal microarray (CMA) may confirm the diagnosis [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Those with developmental delays, cognitive disability, and/or behavioral issues should be evaluated by a psychologist/psychiatrist. Individuals with vision, endocrine, cardiac, and/or renal abnormalities should be managed by the appropriate specialist [more info] |
| Referral: | 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: | One clinical study going on now, register here |