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 AInvestigation
;
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.File in questo prodotto:
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