21. The Health Library — Genetics And Birth Defects genetics and Birth Defects Page 1 Page 2 Page 3 Page 4 Page 5. ChromosomeDisorders and Other Multiple Abnormalities, angelman syndrome. http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetics4.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Birth Defects (General) Cardiovascular Defects Chromosome Disorders Connective Tissue Disorders ... Nervous System Defects Genetics and Birth Defects: Page 1 Page 2 Page 3 Page 5 Chromosome Disorders and Other Multiple Abnormalities Chromosomal Abnormalities:March of Dimes Introduction to Chromosome Abnormalities:Chromosome Deletion Outreach Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Genes and Disease:Angelman Syndrome:NCBI Angelman Syndrome:GeneReviews, University of Washington Beckwith Wiedemann Syndrome Questions and Answers About Living With Beckwith-Wiedemann Syndrome:National Cancer Institute Info for New Families:Beckwith Wiedemann Support Network Beckwith-Wiedemann Syndrome:GeneReviews, University of Washington Bloom Syndrome Bloom's Syndrome:Jewish Genetic Diseases Bloom Syndrome:OMIM, NCBI Cornelia de Lange Syndrome FAQs About CdLS:Cornelia de Lange Syndrome Foundation Treatment Protocols for CdLS:Cornelia de Lange Syndrome Foundation Cornelia de Lange Syndrome:OMIM, NCBI Cri du Chat Syndrome What is Cri du Chat Syndrome?:Cri du Chat Support Group of Australia

22. Angelman Syndrome * angelman syndrome Foundation points out that affected children Full DisclaimerReturn to syndrome List Home. Department of Medical genetics University of http://www.southalabama.edu/genetics/angelm.htm

Angelman Syndrome Angelman Syndrome Foundation points out that affected children tend to have " More... While clinical diagnosis is difficult, new chromosome analysis techniques now identify microdeletions in this syndrome with accuracy. Our team recommends.... A medical examination by a clinical geneticist and a chromosome analysis with advanced (FISH) techniques and DNA analysis for diagnostic confirmation. (Clinical Diagnosis without FISH/Chromosome studies is difficult.) Additional Information ... This site offers information mostly for educational purposes. This site is not intended to alter health care protocols nor to serve as a sole source of medical information. Please read Always seek the advice of your local health care provider. Questions? Return to Syndrome List Home Visitor # Department of Medical Genetics University of South Alabama Email: Webmaster Sponsor: University South Alabama Site Concept: W. W. Page Concept: W. W. 2000720 R.C.

23. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome Uniparental Disomy PraderWilli syndrome, angelman syndrome http://www.chkd.org/Genetics/uniparen.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome What is uniparental disomy? Normally, we inherit one copy of each chromosome pair from our biological mother, and the other copy of the chromosome pair from our biological father. Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from the mother and one copy coming from the father. Angelman syndrome and Prader-Willi syndrome are examples of disorders caused by uniparental disomy. What is Angelman syndrome (AS)?

24. Angelman Syndrome Spanish; angelman syndrome Consensus for Diagnostic Criteria, AmericanJournal of Medical genetics 56237238 (1995); International http://www.kumc.edu/gec/support/angelman.html

Angelman syndrome Angelman Syndrome Foundation , USA 414 Plaza Drive, Suite 209 Westmont, IL 60559 Phone: 800-IF-ANGEL (800-432-6435) International Calls: 630-734-9267 Fax: 630-655-0391 Email: asf@asihq.com Web site: www.angelman.org International Groups Australia Angelman Syndrome Association , Australia Tel: ( 02 ) 95205857 Email: kevink@netspace.net.au web site: http://www.australianholidays.com/asa/asahome.htm Angelman Syndrome Association of South Australia Phone / Fax (08) 8371 4255 Austria Landstrasse Hauptstr 33/1/7 A-1030 Vienna, Austria Belgium Angelman Stichting België Stephensonstraat 108, 1000 Brussel, België tel: Patrick Haverbeke (voorzit.) +32 2 3755237 na 20 u. Bernard Lorand (secr.) +32 2 6732754 na 20 u. Brazil Associação Sindrome de Angelman (ASA-Brazil) E-mail: marcelo@jubilee.com.br Web site: http://asa.netway.com.br/ Canada Canadian Angelman Syndrome Society PO Box 37, Priddis, Alberta, TOL 1WO, Canada Tel: (403) 9312415 Contact: Janet Carscallen Email: cass@cadvision.com

25. Genetic Conditions / Rare Conditions Information Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professional Category Health Conditions and Diseases Genetic Disorders......Genetic and Rare Conditions Site Medical genetics, University of Kansas Medical Anorchia;angelman syndrome; Anopthalmia; Apert syndrome; Arthrogryposis (amyoplasia http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

26. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome Uniparental Disomy PraderWilli syndrome, angelman syndrome. What isuniparental disomy? Normally What is angelman syndrome (AS)? People http://www.uuhsc.utah.edu/healthinfo/pediatric/genetics/uniparen.htm

Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome What is uniparental disomy? Normally, we inherit one copy of each chromosome pair from our biological mother, and the other copy of the chromosome pair from our biological father. Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from the mother and one copy coming from the father. Angelman syndrome and Prader-Willi syndrome are examples of disorders caused by uniparental disomy. What is Angelman syndrome (AS)? People with Angelman syndrome (AS) have mental retardation, severe speech problems, stiff arm movements, and a stiff, uncoordinated walk. They may have seizures and often have inappropriate outbursts of laughter. Angelman syndrome results when a baby inherits both copies of chromosome #15 from the father (rather than one from the mother and one from the father). What is Prader-Willi syndrome (PWS)?

27. Medical Genetics - Site Index Site Index Medical genetics Home. Uniparental Disomy PraderWilli syndrome,angelman syndrome. Trinucleotide Repeats Fragile-X syndrome. http://www.uuhsc.utah.edu/healthinfo/pediatric/genetics/sitemap.htm

Site Index Medical Genetics Home Overview of Birth Defects Chromosome Abnormalities Overview of Chromosome Abnormalities ... University of Utah Health Sciences Center For feedback regarding this site, contact us

28. Department Of Human Genetics - Testing Strategies/Angelman Syndrome Testing Strategies angelman syndrome For patients with an AS phenotype andWe recommend no previous genetic studies chromosome analysis and M-PCR. http://www.genes.uchicago.edu/ucgs/special-diagnostics/PW-AS/ASstrategy.html

Testing Strategies - Angelman syndrome For patients with an AS phenotype and: We recommend: no previous genetic studies: chromosome analysis and M-PCR normal chromosomes: M-PCR normal FISH studies: M-PCR a NORMAL M-PCR result: Does not rule out the possibility that the patient has AS.* an ABNORMAL M-PCR result: Patient has AS; FISH and UPD analysis are indicated.* *For a patient identified as having AS by Methylation-Specific PCR (M-PCR), additional testing is required to determine if the patient has a deletion, paternal UPD15 or an imprinting mutation, and to provide thorough genetic counseling. A normal M-PCR result does not rule out AS. For these patients, a referral to a research laboratory may be appropriate. Approximately 70% of patients with AS have a deletion of 15q11-q13 on the maternally contributed chromosome. Up to 5% of patients with AS have paternal uniparental disomy (UPD) for chromosome 15. A third category of AS cases (approximately 5 to 10%) are due to an abnormality of the imprinting process which affects DNA methylation. M-PCR will identify all AS patients in the above three classes.

29. Department Of Human Genetics - Clinical Features/Angelman Syndrome Clinical Features angelman syndrome Below are traits that are commonto individuals with angelman syndrome. It may be helpful http://www.genes.uchicago.edu/ucgs/special-diagnostics/PW-AS/ASfeatures.html

Clinical Features - Angelman syndrome Below are traits that are common to individuals with Angelman syndrome. It may be helpful to print this page, and keep it with your patients records. Patient's Name:_ Y/N Microcephaly at birth Y/N Delayed development noted between 6-12 months of age Y/N Developmental delay, functionally severe Y/N Speech impairment; no or minimal use of words Y/N Receptive language and non-verbal communication skills higher than verbal skills Y/N Ataxia of gait Y/N Tremulous movement of limbs Y/N Any combination of: frequent laughter/smiling; apparent happy demeanor; easily excitable personality; hand flapping movements; hypermotoric behavior; short attention span Y/N Microcephaly by age 2 yrs Y/N Y/N Abnormal EEG (Results: ) Y/N Flat occiput Y/N Occipital groove Y/N Protruding tongue Y/N Tongue thrusting while suck/swallowing Y/N Feeding problems Y/N Prognathia Y/N Wide mouth, widely-spaced teeth Y/N Frequent drooling Y/N Excessive chewing/mouthing behaviors Y/N Strabismus Y/N Hypopigmented skin, light hair and eye color (as compared to family members) Y/N Hyperactive lower limb deep tendon reflexes Y/N Uplifted, flexed arm position especially during ambulation

30. Pathology Molecular Genetics Angelman Syndrome INDICATIONS FOR TESTING angelman syndrome presents in early childhoodwith hypotonia followed by motor and intellectual retardation. http://www.allkids.org/Specialties/Pathology/Pages/Molecular_Genetics_Angelman_S

INDICATIONS FOR TESTING: Angelman syndrome presents in early childhood with hypotonia followed by motor and intellectual retardation. Affected children are ataxic, epileptic, have absence of speech, and an unusual facies characterized by a large mandible and an open-mouthed expression. Patients demonstrate excessive laughter, an occipital groove, a facility for protruding the tongue, abnormal choroidal pigmentation, and characteristic electroencephalogram (EEG) discharges. This disorder is caused by deletions of chromosome 15q11-q12 (~70% of cases) by uniparental paternal disomy of chromosome 15 (~5%), by mutations in the UBE3A gene (~20%) or by unknown etiology (~5%). TESTING OFFERED: TURN-AROUND TIME: Most testing is completed within a time of 21 days following specimen receipt. Prenatal testing is usually completed within 7 days from specimen receipt. SPECIMEN REQUIREMENTS: All specimens should be kept at room temperature and shipped overnight in an insulated container.

31. The Contact A Family Directory - ANGELMAN SYNDROME the majority of families only one child is affected by angelman syndrome but in ofan affected child should approach their local clinical genetics centre for http://www.cafamily.org.uk/Direct/a54.html

printer friendly ANGELMAN SYNDROME home more about us in your area conditions information ... how you can help search this site Inheritance patterns Angelman syndrome may arise from a variety of genetic abnormalities, all of which involve the same part of chromosome 15. The majority of children have a small deletion of the 15q11-13 region. Diagnostic testing for Angelman syndrome is complex. In the majority of families only one child is affected by Angelman syndrome but in some cases brothers, sisters and extended family members may be affected. It is recommended that parents of an affected child should approach their local clinical genetics centre for genetic counselling and testing on an individual basis. Pre-natal diagnosis Pre-natal tests are available in those families where a definite genetic abnormality has been identified. Medical text last updated August 2002 by Jill Clayton-Smith, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK. The information below has been drawn up by Dr Orlee Udwin of the Society for the Study of Behavioural Phenotypes.

32. Angelman Syndrome J, Faircloth BH, Irish P, Williams CA Communication, cognition and social interactionin the angelman syndrome. American Journal of Medical genetics 463439 http://www.castlegate.net/matthew/caw2.htm

Charles A. Williams, M.D. Professor and Chief Department of Pediatrics PO Box 100296 Gainesville, FL 32610-0296 Telephone: 352.392.3388 Fax: 352.392.3051 Email Address: WILLICA@peds.ufl.edu Residency: Pediatrics, University of Florida Certifications: Medical Genetics, 1984, Pediatrics, 1982 Research Focus Current Research Keywords Relevant Publications Research Focus I study genetic syndromes that map to chromosome 15q11-13: the Angelman and Prader-Willi conditions. I study how different molecular genotypes correlate with development. Affected individuals are evaluated in my clinics and DNA repositories established (collaboration with Dr. Daniel Driscoll in my division). My research aims at developing diagnostic criteria and identifying treatment strategies based on genotype information. I also study velo-cardio-facial syndrome (VCFS), caused by microdeletions in chromosome 22q11.2. In collaboration with Dr. Robert Zori in my division, we evaluated children with velopharyngeal insufficiency to identify prevalence of VCFS. Current Research Project Title Funding Agency Role Project Period Award HRS/CMS REGIONAL GENETICS/INFANT SCREENING PI Cur: $ 254,793

33. Angelman Syndrome - Rachel Williams brother on the spot. Matthew had angelman syndrome. As it turned out,Uncle Charlie specialized in the genetics of angelman syndrome. http://www.castlegate.net/matthew/rachel1.htm

Matthew's Sister Rachel M. Williams ANGELMAN SYNDROME As presented by Rachel M. Williams October 13, 2000 At Brevard Community College, Cocoa, Florida My family received a most unique gift one Christmas Day. After three years of trying to find out why my brother, Matthew, was not developing mentally and physically, we met my uncle, Dr. Charles Williams, at a family Christmas gathering. He immediately took us, on Christmas Day, to the University of Florida's genetics research department and diagnosed my brother on the spot. Matthew had Angelman Syndrome. As it turned out, Uncle Charlie specialized in the genetics of Angelman Syndrome. Today I would like to inform you a little about Angelman Syndrome. In the twelve years my brother was alive, I learned a great deal about the scientific nature of this condition as well as how to care for an individual with Angelman. I would like to share some of this information with you by first explaining the history of Angelman Syndrome, as well as a brief description of the characteristics, and finally the role Angelman Syndrome played in my life. English physician, Dr. Harry Angelman, diagnosed Angelman Syndrome in 1965. According to an article by Dr. Angelman entitled, "Puppet Children: A Report on Three Cases," he described three children admitted to his children's ward in England. At first, they seemed to be suffering from different conditions, but he felt there was a common cause for their illness. He described all three as having stiff, jerky movements, no speech, excessive laughter, and seizures. His diagnoses were purely clinical because in spite of technical investigations, which today are more refined, he was unable to establish scientific proof that all three children had the same condition.

34. Angelman Syndrome syndrome Foundation Ukrainian angelman syndrome Diagnostic Testing for PraderWilliand angelman syndromes Report Society of Human genetics/American College http://ibis-birthdefects.org/start/amfact.htm

Angelman Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Angelman Syndrome Special Resources Angelman Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [French] [German] [Spanish] [Ukrainian] [P][*] Angelman Syndrome Chromosome Region - Happy Puppet Syndrome 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). [P][*] Angelman Syndrome Another premier source of information for specialists by Drs. C.A. Williams, A.C. Lossie and D.J. Driscoll (September, 1998). The Genes Involved in Angelman Syndrome and Clinical Photographs "... two different syndromes caused by the same chromosome deletion (Angelman and Prader Willi syndromes) ..." Photographs courtesy of R.D. Nicholls Angelman Syndrome: Consensus for Diagnostic Criteria A committee report (Am. J. Med. Genet. 56:237, 1995)

35. Angelman Syndrome syndrome? The genetics of angelman syndrome? Is there a treatment for angelmansyndrome? return to top The genetics of angelman syndrome. In http://people.zeelandnet.nl/fhof/angelman/asi.htm

var titel="Angelman syndrome information" var nummer=1 The facts Links Parent support ... Gallery document.write(titel) This is a copy of the page by John Miles, he is no longer able to have the page online, so I am honoured to be able to let this info remain surfable. Contents List What is Angelman Syndrome? Diagnosis What causes Angelman Syndrome? Behaviour in Angelman Syndrome? ... Research into Angelman Syndrome What is Angelman Syndrome? Angelman Syndrome (AS) is neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behaviour. Dr. Harry Angelman, a paediatrician working in Warrington, Cheshire, first reported three children with this condition in 1965 and it was initially presumed to be rare. In 1987, it was first noted that around half of the children with AS have a small piece of chromosome 15 missing (chromosome 15 deletion). Since this time the condition has been reported more frequently and the incidence is now thought to be 1 in 25,000 children. return to top Diagnosis of Angelman Syndrome The diagnosis of AS is usually made by a paediatrician or clinical geneticist and is based on: a history of delayed motor milestones and then later a delay in general development, especially of speech

36. Faculty: M. Lalande, Department Of Genetics And Development, University Of Conne Chairman Department of genetics Development. angelman syndrome, a neurogeneticdisorder, is caused by the absence or loss of function of the gene encoding http://genetics.uchc.edu/faculty/lalande.html

Marc Lalande, Ph.D. Professor Assistant/Associate Professor Children's Hospital/ Harvard Medical School, Boston, MA, 1988-98 Assistant Investigator Howard Hughes Medical Institute, 1992-98 Assistant Professor McGill University/National Research Council, Montreal, Canada, 1985-88 Postdoctoral Fellow Children's Hospital/ Harvard Medical School, Boston, MA, 1981-85 Ph.D. Medical Biophysics, University of Toronto, Toronto, Canada, 1981 Telephone: E-mail Address: lalande@neuron.uchc.edu Research: Angelman syndrome, a neurogenetic disorder, is caused by the absence or loss of function of the gene encoding the UBE3A ubiquitin-protein ligase (also called the Angelman ubiquitin ligase). UBE3A is subject to genomic imprinting as only the maternal allele of UBE3A is expressed in brain. Angelman syndrome is characterized by severe mental retardation, 'puppet-like' ataxic gait with jerky arm movements, hyperactivity, bouts of inappropriate laughter, EEG abnormalities and seizures. Several members of the LALANDE laboratory, including research associate Heather Glatt-Dealy, are attempting to understand how UBE3A is imprinted and how a loss of function of the maternal allele of this gene causes Angelman syndrome. We recently identified an antisense transcript for UBE3A ( Rougeulle et al., Nature Genet. 19: 15-16, 1998

37. Cook Children's Health Care // 404 Page Not Found     Uniparental Disomy PraderWilli syndrome, angelman syndrome What isuniparental disomy? Normally What is angelman syndrome (AS)? People http://www.cookchildrens.com/CC/Ped/genetics/uniparen.htm

Site Doctors Donate Now Contact Us Home About Cook Children's ... Wish List Testimonials -Angelica, mother of heart patient 404 Page Not Found "Four Oh Four." Oops! The page you have requested has moved or is no longer available. Please go to the Cook Children's home page or search our site. [back to top] Related Information Related Physicians Find A Physician Related Pages Find a Physician Find a Service Kids' Health Quiz Which vaccines should infants receive before age 18 months? A Diphteria, Tetanus and pertussis vaccine (DTaP) B Haemophilus influenzae vaccine (Hib) C Pneumococcal vaccine (PCV) D All of the above privacy notice

38. Nature Publishing Group pp 440 443 The imprinting box of the Prader-Willi/angelman syndrome domain Ruth Razin1 1. Department of Cellular Biochemistry and Human genetics, The Hebrew http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n4/full/ng1200_4

39. The Imprinting Box Of The Prader-Willi/Angelman Syndrome Domain neurogenetic disorders, PraderWilli syndrome (PWS) or angelman syndrome (AS), respectively. Departmentof Cellular Biochemistry and Human genetics, The Hebrew http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n4/abs/ng1200_44

40. Canadian Angelman Syndrome Society - August Conference 2000 1040 am, Dr. Patrick MacLeod (Victoria General Hospital) Medical genetics. Institute,Mountain View, CA) - GABA Receptors, Epilepsy, and angelman syndrome. http://www.armyofangels.org/conference.htm

Canadian Angelman Syndrome Society M I L L E N N I U M C O N F E R E N C E August 10 to 13, 2000 Vancouver, British Columbia, Canada Conference Update June 2000 T H E M E Living With An Angel The sparkling Pacific Ocean and soaring mountain peaks surround a city bathed in brilliant summer sunshine. Welcome to Vancouver, site of this year's millennium Canadian Angelman Syndrome Society's Third International Conference. As we enter this new millennium, it is appropriate that our theme, Living With An Angel, focuses on the future of our special children. Their future is the single thought foremost in our minds. There is so much to consider, so much to plan. There are worries, and there are dreams. And there is so much to learn. The Living With An Angel theme has been applied to a program selected to provide parents, families, caregivers, and health care professionals with practical information that will help our children lead happy and fulfilling lives. The Living With An Angel conference will address many facets of our Angels' lives, from birth through adulthood, including lifelong skills such as communication and education. Health issues will include scoliosis, puberty, and sleep disorders. A planned agenda of topics and activities for the entire conference is included for your information. Seize the opportunity to combine the beauty of Vancouver with learning and sharing experiences with other families. Everyone will appreciate an extra day or two built around the conference to see the sights, especially our American neighbors, whose dollars go further. Living With An Angel will give parents and families the chance to meet new and old friends as we support and encourage each other.

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