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| Disease found: | Dup15q Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Clinically identifiable syndrome which results from duplications of the portion of 15q11.2-13.1 chromosome [more info] |
| Signs and Symptoms: | Hypotonia, ASD, feeding difficulties, fine motor delays, speech delay, intellectula disability [more info] |
| Diagnosis: | Genomic testing methods that determine the copy number of sequences can include chromosomal microarray analysis (CMA) or targeted duplication analysis [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Specialist referrals and supportive therapy [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 currently recruiting |