4/2/2023 0 Comments Ortho genes extract software![]() ![]() All three had epileptic seizures with a characteristic EEG appearance and subtle dysmorphic facial features. In 1965, Harry Angelman, an English paediatrician, reported the clinical findings in three children with similar features of severe learning disability, ataxic, jerky movements, inability to speak, and easily provoked laughter. The genetic mechanisms identified so far in AS are found in 85-90% of those with the clinical phenotype and all interfere with UBE3A expression. UBE3A shows tissue specific imprinting, being expressed exclusively from the maternal allele in brain. These include maternal deletion, paternal uniparental disomy, imprinting defects, and point mutations or small deletions within the UBE3A gene, which lies within this region. It is caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deep set eyes. Patients with AS have a characteristic behavioural phenotype with jerky movements, frequent and sometimes inappropriate laughter, a love of water, and sleep disorder. In the majority of cases speech does not develop. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. ![]() Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. ![]()
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