Angelman Syndrome: Difference between revisions
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|eng=Angelman syndrome}}</noinclude> | |eng=Angelman syndrome}}</noinclude> | ||
[[File:Angelman.jpg|thumb|''Chromosome 15'' - '''Angelman syndrome''']] | [[File:Angelman.jpg|thumb|''Chromosome 15'' - '''Angelman syndrome''']] | ||
*This syndrome is caused by the loss of function of ''gene UBE3A'' - just the maternal copy of this gene is functional. Thus loss of the maternal gene causes this symptome. This genetic disorder is connected especially with the nervous system. Children are affected in their early age. | *This syndrome is caused by the loss of function of ''gene UBE3A'' - just the maternal copy of this gene is functional. Thus loss of the maternal gene causes this symptome. The critical region of this disorder is located on chromosome 15 (The Prader-Willi/Angelman Critical Region- PWACR; 15q11-13). This genetic disorder is connected especially with the nervous system. Children are affected in their early age. | ||
*''Typical symptoms'': developmental delay, speech problems, ataxia, epilepsy or microcephaly. | *''Typical symptoms'': developmental delay, speech problems, ataxia, epilepsy or microcephaly. | ||
*Patients are sometimes called "'''happy puppets'''" because of their behavior. They frequent smile, laugh and have flapping movements. | *Patients are sometimes called "'''happy puppets'''" because of their behavior. They frequent smile, laugh and have flapping movements. | ||
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=== Related articles === | === Related articles === | ||
* [[Genomic Imprinting]] | * [[Genomic Imprinting]] | ||
* [[Prader-Willi Syndrome]] | |||
* [[Gene]] | * [[Gene]] | ||
* [[Allele]] | * [[Allele]] | ||
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[[Category: Biology]] | [[Category: Biology]] | ||
[[Category: Genetics]] | [[Category: Genetics]] | ||
[[Category: Paediatrics]] | |||
Revision as of 10:01, 28 August 2011
| English: Angelman syndrome |  |
- This syndrome is caused by the loss of function of gene UBE3A - just the maternal copy of this gene is functional. Thus loss of the maternal gene causes this symptome. The critical region of this disorder is located on chromosome 15 (The Prader-Willi/Angelman Critical Region- PWACR; 15q11-13). This genetic disorder is connected especially with the nervous system. Children are affected in their early age.
- Typical symptoms: developmental delay, speech problems, ataxia, epilepsy or microcephaly.
- Patients are sometimes called "happy puppets" because of their behavior. They frequent smile, laugh and have flapping movements.
- Incidence of Angelman syndrome is 1 in 12 000 - 20 000 people worldwide.
Links
Related articles
Sources
Bibliography
- KUMAR, ABBAS, FAUSTO, MITCHELL,. Robbins Basic Pathology. 8th edition edition. 2007. ISBN 978-0-8089-2366-4.
