Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis)
نویسندگان
چکیده
منابع مشابه
Molecular and Clinical Aspects of Angelman Syndrome.
The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other...
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acute respiratory distress syndrome (ards) is a potential complication of cardiac surgery, given that patients undergoing cabg frequently have hypoxemia and pulmonary dysfunction during initial hours after surgery. thus, ards criteria in these patients are more likely to be positive while these criteria may not match the patient`s clinical picture. we aimed to investigate frequency of rapid ons...
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[Angelman syndrome].
An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient. The incidence of the Angelman-syndrome may be underestimated.
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...
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ژورنال
عنوان ژورنال: CHILD`S HEALTH
سال: 2015
ISSN: 2307-1168,2224-0551
DOI: 10.22141/2224-0551.6.66.2015.75029