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| Disease found: | 22q11.2 duplication syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomally dominantly inherited or random disorder used by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. [more info] |
| Signs and Symptoms: | Intellectual or learning disability, developmental delay, slow growth, short stature, hypotonia, cleft palate, depressed nasal ridge, hypertelorism. [more info] |
| Diagnosis: | Cases are identified by a technique known as chromosomal microarray. [more info] |
| Treatment: | Supportive Treament Only [more info] |
| Clinical Management: | Appropriate referral to specialists/therapy [more info] |
| Referral: | The International 22q11.2 Foundations suggests various clinicians and clinics. . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |