Angelman Syndrome
ثبت نشده
چکیده
Angelman syndrome is a disorder in humans [2] that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six?one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the paternal chromosome 15 is inactivated in some parts the brain. The result is the paternal gene is silenced during development of the sperm [3], which is called genetic imprinting. Angelman syndrome was one of the first disorders described as caused by genetic imprinting.
منابع مشابه
A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes
Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report o...
متن کاملAngelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report
INTRODUCTION Angelman syndrome, a neurodevelopmental genetic disorder associated with abnormalities in chromosome15q11-q13, is inherited from the mother. Epilepsy is seen in 85 % of children with Angelman syndrome within the first 3 years of life and is often severe and difficult to control. CASE PRESENTATION We report a case of a baby boy who presented at 13 months of age with a history of a...
متن کاملAngelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases
Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative. With the advancement of genomic technology like array comparative genomic hybridization and next generation sequencing methods, it is found that some patients of...
متن کاملThe behavioural phenotype of Angelman syndrome.
BACKGROUND The purpose of this review is to examine the notion of a behavioural phenotype for Angelman syndrome and identify methodological and conceptual influences on the accepted presentation. METHODS Studies examining the behavioural characteristics associated with Angelman syndrome are reviewed and methodology is described. RESULTS Potential bias in the description of the phenotype eme...
متن کاملAngelman Syndrome
Angelman syndrome is a disorder in humans [2] that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six?one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the p...
متن کامل