Highlight text to provide feedback
| Disease found: | 1q21.1 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | 1q21.1 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm of chromosome 1 at position 21.1 is deleted [more info] |
| Signs and Symptoms: | Pyschiatric/Mental Finds (speech and motor delays, mild intellectual disability, autism spectrum disorders, anxiety and mood disorders, schizophrenia, attention deficit hyperactivity disorder, seizures, and sleep disorders) or Physical Stucture Abnormalities (microcephaly, distinctive facial features, eye abnormalities, heart, skeleton, and urinary system) [more info] |
| Diagnosis: | Can be detected using chromosomal microarray analysis (CMA) using oligonucleotides or polymorphic DNA markers, and FISH analysis. [more info] |
| Treatment: | Anti-seizure or antipsychotic medication as needed [more info] |
| Clinical Management: | Routine treatment of ophthalmologic, cardiac, and neurologic findings; speech, occupational, and physical therapies as appropriate. [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 |