We describe a new case of pericentric inversion of chromosoma 8(p21,q21) with clinical, neurophysiological, neuroradiological and genetic aspects. The case is about a little girl presenting growth delay, facial dysmorphism, nistagmus and psychomotor retardation. Cerebral MRI scan evidenced cortex atrophy. Seizures appeared when she was 11 months and we describe her EEGs. CGH-array investigates genetic alterations.

Pericentric inversion of chromosome 8 with psychomotor retardation and epilepsy

Suppiej A
Investigation
;
2006

Abstract

We describe a new case of pericentric inversion of chromosoma 8(p21,q21) with clinical, neurophysiological, neuroradiological and genetic aspects. The case is about a little girl presenting growth delay, facial dysmorphism, nistagmus and psychomotor retardation. Cerebral MRI scan evidenced cortex atrophy. Seizures appeared when she was 11 months and we describe her EEGs. CGH-array investigates genetic alterations.
2006
Vecchi, M; Zanato, S; Suppiej, A; Clementi, M; Finotti, E; Boniver, C
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2388059
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