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| Disease found: | 15q13.3 microduplication syndrome |
| Current as of: | Thu Nov 21 2024 |
| Disease Overview: | Random or autosomal dominanat disorder caused by extra piece of genetic information long arm of chromosome 15 causing mental and physical development deficits. [more info] |
| Signs and Symptoms: | Mental deficits (Intellectual disability, communication difficulties, behavioral and psychiatric problems, autistic features, emotional instability, attention-deficit hyperactivity disorder (ADHD), schizophrenia, difficulty sleeping) and physical deficits (feeding problems, low muscular tone, seizures, cleft palate (CHRNA7 gene duplication)) [more info] |
| Diagnosis: | Physical exam findings (feeding problems, developmental delay, intellectual disability, or behavioral problems) plus genetic testing using chromosomal microarray (CMA) to confirm diagnosis [more info] |
| Treatment: | Epilepsy is treated with anti-seizure medication (ASM). [more info] |
| Clinical Management: | Learning and communication deficits can be managed through various therapies [more info] |
| Referral: | Dup15q Alliance recommends multiple clinics which can be found here. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various clinical trials currently recruiting |