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| Disease found: | 1q duplications |
| Current as of: | October 8, 2024 |
| Disease Overview: | Inherited or random 1q duplications are chromosome abnormalies that occurs when there is an extra copy of genetic material on the long arm of chromosome 1. [more info] |
| Signs and Symptoms: | Featuresw of autism spectrum disorder including expressive and receptive language skills, developmental delay, learning disabilities, slow growth and/or short stature, cleft palate, heart defect, and small, receding jaw. [more info] |
| Diagnosis: | Karotying and FISH used for diagnosis [more info] |
| Treatment: | Supportive therapy only [more info] |
| Clinical Management: | Therapy, and sometimes surgical interventions can be used for long term management [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 |