6q terminal deletion syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
6q terminal deletion syndrome. This presents with head and eye version. It is associated with vomiting and cyanosis. Fully referenced neurology checklist.
Focal occipital epilepsy
- This presents with head and eye version
- It is associated with vomiting and cyanosis
- Consciousness may be preserved
Other clinical features
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Magnetic resonance imaging (MRI) brain: features
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References
- Elia M, Striano P, Fichera M, et al. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. Epilepsia 2006; 47:830-838.
- Striano P, Malacarne M, Cavani S, et al. Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: five new cases. Am J Med Genet A 2006; 140:1944-1949.
- Abu-Amero KK, Hellani A, Salih MA, et al. Ophthalmologic abnormalities in a de novo terminal 6q deletion. Ophthalmic Genet 2010; 31:1-11.
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