6q terminal deletion syndrome
Evidence-based neurology checklist on 6q terminal deletion syndrome: Focal occipital epilepsy This presents with head and eye version It is associated with vomiting and cyanosis Consciousness may be preserved Other clinical features Magnetic resonance imaging (MRI) brain: features
Focal occipital epilepsy
- This presents with head and eye version
- It is associated with vomiting and cyanosis
- Consciousness may be preserved
Other clinical features
Magnetic resonance imaging (MRI) brain: features
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.
Related checklists
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- 1p36 monosomy
- 1q deletion syndrome
- 2p deletion syndrome
- 2q deletion syndrome
- 3p deletion syndrome
- 15 inversion duplication syndrome
- 15q13.3 microdeletion syndrome
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- Fragile X syndrome
- Ring 14 chromosome
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