| ... most commonly caused by deletion of the maternal chromosome 15q11 ... genes associated with Angelman Syndrome (especially Ube3A) ... similar syndrome, Prader-Willi ... due to deletion of the paternal chromosome 15q11 ... Angelman Syndrome appear to be normal at birth ... manifestations ... do not appear until after 6 months ... feeding deficits present at birth ... developmental delay, jerky gait, seizures, sleep disturbances and an "inappropriately" happy demeanor ... non-verbal ... |
Angelman Syndrome: Consensus for Diagnostic Criteria
Angelman Syndrome Foundation Inc. A committee report (Am. J. Med. Genet. 56:237, 1995)
 "... geared towards family ..."
The diagnosis of Angelman syndrome is currently a clinical diagnosis that can be confirmed by laboratory testing in about 80% of cases."
National Angelman Syndrome Foundation - Information for Families
January 18, 2002
[Support Group]
Facts about AS - a comprehensive source of information
Photographs of children and adults with Angelman Sydrome
Harold Anderson, October 4, 1999
"... pictures of patients ... good resource ..."
For families and professionals.
Angelman Syndrome
Genetics Home Reference, June 1, 2007
"... informative ... short."
Diagnostic Testing for Prader-Willi and Angelman Syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee
Am. J. Hum. Genet. 58:1085---1088, 1996 … ASHG/ACMG Report … American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee
"... types of genetic analysis ..."
… Overview … High-Resolution Chromosome Analysis … FISH … PCR to Detect UPD … Methylation Analysis … Approach I a) Conduct analysis of parent-of-origin status by using Southern hybridization with the methylation-sensitive SNRPN or PW71B probes. 1. If biparental inheritance is identified ... 2. If only maternal alleles are present ... 3.If only paternal alleles are present … Approach II A) Perform chromosome analysis and FISH using SNRPN or other probe in the common deletion region, along with a centromeric probe. B) Perform methylation analysis, which will detect both UPD and imprinting mutations. 1. If methylation analysis is normal ... 2. If methylation analysis is abnormal … If maternal UPD is present … If paternal UPD is present … Prenatal detection is possible as follows …
Angelman Syndrome Chromosome Region - Happy Puppet Syndrome
John Hopkins University, 2007
[for Professionals mainly]
Premier source of information mostly for medical geneticists. " ... name 'happy puppet' syndrome for a condition with features of severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and unusual facies characterized by a large mandible
and open-mouthed expression revealing the tongue ... use of the eponym Angelman syndrome because the term 'happy puppet' may appear derisive ..." (April, 1999).
Angelman
Syndrome
Charles A. Williams M.D. et al, GeneReviews, February 21, 2007
[for Professionals mainly]
NINDS Angelman Syndrome Information Page
National Institute of Neurological Disorders and Stroke, February 8, 2007
Angelman Syndrome Information for Families & Professionals
Harold Anderson
Angelman Syndrome
Stephen M. Edelson, Ph.D. Center for the Study of Autism, Salem, Oregon ...
Association Francaise Du Syndrome D'Angelman
AFSA, June 2, 2007
[French]
Provides addresses of expert physicians (June, 1999).
Angelman
Syndrome
I.B.I.S. Birth Defects, February 15, 2002
[Ukrainian]
________________________________________________________________________________________________
Last Updated: 2007/08/30
________________________________________________________________________________________________
|
