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| Disease found: | 1q44 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | 1q44 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm of chromosome 1 at position 44 is deleted. [more info] |
| Signs and Symptoms: | Facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. [more info] |
| Diagnosis: | Chromosome Microarray, Whole-Exome Sequencing, Cap CNV Analysis, Sybergreen Fluorescent Quantitative PCR [more info] |
| Treatment: | Anti-seizure medication as needed [more info] |
| Clinical Management: | Therapy and follow up with specialists as needed [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: | None are available, but can sign up to be notified when one becomes available |