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
Victor A. McKusick, OMIM, John Hopkins University, May 5, 2008
[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)

Tocado por un Angel
Angelman Syndrome Foundation Inc., 1997
[Spanish]
(Esta pagina es adaptada de un boletГ­n disponible de la FundaciГіn del SГ­ndrome de Angelman y transducida por Maria Suiter Matamoros y Wayne Suiter Matamoros) ... La FundaciГіn del Sindrome Angelman se estableciГі en 1990 ...

Realidades Sobre el SГ­ndrome de Angelman: InformaciГіn para Familias
Asclepius.com, January 18, 2002
[Spanish]
En 1965, el Dr. Harry Angelman, un mГ©dico inglГ©s, describiГі por primera vez a tres niГ±os con caracterГ­sticas, ahora conocidas, como el SГ­ndrome de Angelman (AS)1 . Г‰l notГі que todos tenГ­an rigidez, andar espГЎstico, ausencia de habla, risa excesiva y crisis convulsivas.Otros casos fueron publicados2,8 de forma esporГЎdica pero la caracterГ­stica fue considerada sumamente rara y muchos mГ©dicos dudaron de su existencia. Los primeros informes de AmГ©rica del Norte aparecieron a principio de los aГ±os 809-10 y en los diez Гєltimos aГ±os ha aparecido mucha informaciГіn nueva.11,18 El Dr. Angelman relata lo siguiente con respecto a su descubrimiento de este sГ­ndrome(19) ... Sin embargo, estando de vacaciones en Italia, vi una pintura al Гіleo en el museo de Castelvecchio en Verona llamada . . un Muchacho con una muГ±eca. La cara de sonrisa del muchacho y el hecho de que mis pacientes mostraran movimientos rГ­gidos, me dieron la idea de escribir un artГ­culo sobre los tres niГ±os con el tГ­tulo de NiГ±os MuГ±eca ... El sГ­ndrome de Angelman, normalmente, no se detecta en el reciГ©n nacido o en la infancia, dado que los problemas de desarrollo son inespecГ­ficos durante este tiempo. Los padres, en primera instancia, pueden sospechar el diagnГіstico despuГ©s de leer sobre SA o ver a un niГ±o de esas caracterГ­sticas. La edad mГЎs comГєn de diagnГіstico estГЎ entre tres y siete aГ±os cuando las conductas caracterГ­sticas y rasgos se hacen mГЎs evidentes. Un resumen del desarrollo y las caracterГ­sticas fГ­sicas ha sido recientemente publicado21 con el propГіsito de establecer criterios clГ­nicos para el diagnГіstico; Г©stos estГЎn pueden verse mГЎs adelante. Todos los rasgos no necesitan estar presentes para que el diagnГіstico pueda ser hecho y el diagnГіstico, a menudo, es lo primero que se sospecha cuando las conductas tГ­picas son reconocidas. ...

Angelman Syndrome
I.B.I.S. Birth Defects, February 15, 2002
[Ukrainian]

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Last Updated: 2008/6/11

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