Volume : IX, Issue : II, February - 2019

ANGELMAN SYNDROME: A COMPREHENSIVE REVIEW OF GENETIC ABNORMALITY

Ms. Jyoti Shokeen, Ms. Varinder Kaur

Abstract :

Angelman syndrome is a rare genetic and neurological disorder. It is characterised by jerky movements, frequent and sometimes inappropriate laughter, a love of water, severe mental retardation and learning disabilities, ataxia, and susceptibility to seizures and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deepest eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11–13 region, which is subject to genomic imprinting. 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.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

ANGELMAN SYNDROME: A COMPREHENSIVE REVIEW OF GENETIC ABNORMALITY, Ms. Jyoti Shokeen, Ms. Varinder Kaur INDIAN JOURNAL OF APPLIED RESEARCH : Volume-9 | Issue-2 | February-2019

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