I.B.I.S.
International Birth Defects Information Systems
International Birth Defects Information Systems
Mission: Amelioration and Prevention of Birth Defects and Genetic Disorders
Angelman Syndrome
| Topics: | Angelman Syndrome | |
| Related Topics: | Disabilities | Birth Defects | Fetal Alcohol Syndrome | |
| Service Related: | Support Groups | Professional Associations | Key Information Sources | |
| Languages: | English | French | Ukrainian | |
... 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)
[ English ] "... 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."
Category: Angelman Syndrome - Angelman Syndrome
Genetics Home Reference, June 1, 2007 [ English ] "... informative ... short."
Category: Angelman Syndrome - 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 [ English ] "... 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 …
Category: Angelman Syndrome - Angelman Syndrome Chromosome Region - Happy Puppet Syndrome
Victor A. McKusick, OMIM, John Hopkins University, May 5, 2008 [ English ]
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).
Category: Angelman Syndrome - Angelman Syndrome
Charles A. Williams M.D. et al, GeneReviews, February 21, 2007 [ English ]
Category: Angelman Syndrome - NINDS Angelman Syndrome Information Page
National Institute of Neurological Disorders and Stroke, February 8, 2007 [ English ]
Category: Angelman Syndrome - Angelman Syndrome
Stephen M. Edelson, Ph.D. Center for the Study of Autism, Salem, Oregon ... [ English ]
Category: Angelman Syndrome - Association Francaise Du Syndrome D'Angelman
AFSA, June 2, 2007 [ French ]
Provides addresses of expert physicians (June, 1999)
Category: Angelman Syndrome - Синдром Ангельмана
I.B.I.S. Birth Defects, February 15, 2002 [ Ukrainian ]
Category: Angelman Syndrome
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