81. Angelman Syndrome. Support for parents includes Support organisations, such as the angelman SyndromeAssociation Australia; Genetic counselling; Family therapy; Respite care. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Angelman_syndrome

82. RS Vs Angelman Syndrome - From Sep 97 To Apr 98 I have a brochure from the Canadian angelman s Foundation that reads angelman Syndromeis a genetic disorder first described by an English pediatrician, Dr. http://www.rettsyndrome.org/digests/00028.htm

What is Rett Syndrome? New to our website Meet some Rett angels Genetics ... Links Website last updated Wednesday April 21, 2004 RS vs Angelman Syndrome [from Sep 97] Subj: Angelman Syndrome Date: 97-09-12 00:28:20 EDT Hi Rettneters - Â she asked me if anyone had ever suggested Angelman Syndrome as a diagnosis for Stefanie. I've heard of it, vaguely, and did some internet research this afternoon on it, and evidently it's a syndrome that is easily confused with Rett Syndrome so that girls could be misdiagnosed. Evidently, there's a test for it - most of the kids have a deletion on chromosome 15, so I guess we'll have the test done (a blood test), but I was just wondering if any of you had received Angelman's as a possible diagnosis for your daughter. Stefanie doesn't really totally fit the criteria for Angelman's (although she also doesn't totally fit the criteria for Rett's either, hence the "atypical" label), so I'm curious. Maybe IRSA/Kathy Hunter could help clarify for me here, too. Thanks in advance - we've already had her diagnosed with ataxic CP and had to deal with the new diagnosis of Rett's 3 years ago, so I feel like here we go again...

83. Angelman Syndrome; Treatment, Prevention, Cure angelman syndrome Search here for information which may include treatment, diagnosis,prevention, support groups, email lists, messageboards, personal stories http://www.healthlinkusa.com/content/18.html

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, January 4, 2004 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Sunday June 06, 2004 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

84. Neurodegenerative Disorder With No Major Physical Disability Turner syndrome, Genotype is 46, X. Multiple X syndromes, Genotype is 47, XXX; 48,XXXX, and 49 XXXXX. Deletion and mutation, angelman syndrome, Genetic changes http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNP2TA01.htm

Neurodegenerative disorder with no major physical disability NeuroLearn NeuroHelp Neurodevelopmental Disorders Disorder Genetics and Etiology Clinicopathologic features Chromosomal abnormalities Down syndrome Trisomy 21 or translocation of chromsome 21 to other chromosome, usually 14 or 21. Triplication of the 21q21-q22.3 is critical. Klinefelter syndrome Genotype is 47, XXY. Multiple Y chromosome syndrome Genotypes include 47, XYY and 48 XXYY. Turner syndrome Genotype is 46, X. Multiple X syndromes Genotype is 47, XXX; 48, XXXX, and 49 XXXXX. Deletion and mutation Angelman syndrome Genetic changes: Most common is microdeletion of the long arm of chromosome 15q11-13 that is of maternal origin (identifiable in approximately 60% of cases) which is the same site as the chromosomal defect in Prader-Willi syndrome. Uniparental disomy: About 2% of them are due to paternal uniparental disomy (the child has two copies of the father’s chromosome 15 but Is missing the mother’s chromosome 15). Imprinting mutation: the patient shows an exclusively paternal methylation pattern on the maternally derived alleles.

85. Ils Sont Aux Anges! - What Is Angelman Syndrome ? information on angelman syndrome shares information in French and English (amongothers including Spanish, Portuguese and German) on this genetic disorder http://membres.lycos.fr/angelman/2sa.htm

What is Angelman Syndrome ? INDEX What is an angel ? Characteristics Why is it called Angelman Syndrome ? Origins How do I know for sure if I have an angel ? Genetic tests What do we know about angels ? State of the research on AS worldwide Some additional texts to learn more about AS Angelman Syndrome is not a disease, but a neurogenetic condition that cannot be cured, due to an anomaly on the maternal side of chromosome 15 (the half inherited from the mother). There are many different mechanisms giving rise to the Syndrome, but the majority of children with Angelman syndrome present with a veritable piece of maternal chromosome 15 missing, or deleted. This corresponds to a loss of 3 million base pairs of genetic material, resulting in the physical and intellectual delays in our children. Despite the loss of genetic material, the quality of life of our Angelman children (often called angels, for short) can be considerably improved if they are diagnosed in childhood and if appropriate medical care and therapies are given. Below, you have a description of an angel, followed by a text on the origins of the syndrome, genetic tests available, and the current state of genetic research . What is an angel ? Characteristics

86. Prader-Willi/Angelman Syndromes Protocol Genzyme Genetics Go. Browse by Condition Select a condition http://www.genzymegenetics.com/testdir/tests_conditions/FISH/FISH_prader.asp

We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. Genzyme Genetics Home Contact Us Search Genzyme Corporate ... Genzyme Websites What's New In: Select One Genetic Testing Genetics News Tests and Conditions Biochemical Genetics Cytogenetics Fluorescence In Situ Hybridization (FISH) ... General Specimen Handling Instructions Prader-Willi/Angelman Syndromes Protocol Peripheral Blood Methylation, Chromosomes, FISH, and UPD Tests Specimen Requirements Child: 5-7 cc in yellow-top ACD-A or lavender-top EDTA tubes and 2-5 cc in green-top sodium heparin tube Adult: 20 cc in yellow-top ACD-A or lavender-top EDTA tubes and 5-10 cc in green-top sodium heparin tube Turnaround Time 2-4 weeks Comments Please call a Laboratory Genetics Coordinator prior to obtaining specimens. A completed PWS/AS addendum should accompany all samples. Please call Client Services at 800-848-4436 to obtain this form. Methylation Test only Specimen Requirements Child: 5-7 cc in yellow-top ACD-A or lavender-top EDTA tubes Adult: 20 cc in yellow-top ACD-A or lavender-top EDTA tubes Turnaround Time 2 weeks Uniparental Disomy Test Only Specimen Requirements (parental bloods required): Child: 5-7 cc in yellow-top ACD-A or lavender-top EDTA tubes Adult: 20 cc in yellow-top ACD-A or lavender-top EDTA tubes Turnaround Time 2 weeks Chromosome Analysis and FISH Specimen Requirements Child: 2-5 cc in green-top sodium heparin tubes Adult: 5-10 cc in green-top sodium heparin tubes

87. HSC Department Of Paediatric Laboratory Medicine Molecular diagnosis of the PraderWilli and angelman syndromes by detection of parent-of-originspecific DNA methylation in 15q11-q13. Human genetics 90 313 http://www.sickkids.on.ca/molecular/AngelmanSyndrome.asp

88. Entrez PubMed as a framework for complete DNA sequencing. MeSH Terms AngelmanSyndrome/genetics*; Base Composition; Chromosome Mapping/methods; http://genomebiology.com/pubmed/9477342

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Genome Res. 1998 Feb;8(2):146-57. Related Articles, Links Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH.

89. Angelmanin Oireyhtymä - WWW-sivuja, Kirjallisuutta Laan, LA den Boer A, Hennekam R., Renier W. Brouwer 0. (1996) angelman Syndromein Adulthood. American Journal of Medical genetics, 66, 356360. http://www.kvtl.fi/angel/linkit.htm

L http://chem-faculty.ucsd.edu/harvey/asfsite/Diagnostic_Criteria.html http://www.faseb.org/genetics/acmg/pol-22.htm http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?105830 Online Mendelian Inheritance in Man-tietokannan artikkeli. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi http://www.mygale.org/02/angelman/index-2.htm Bibliografia. http://chem-faculty.ucsd.edu/harvey/angelpro.html http://www.geneclinics.org/profiles/angelman P http://www.asclepius.com/iaso http://www.asclepius.com/angel/ http://chem-faculty.ucsd.edu/harvey/AS_info.html http://people.zeelandnet.nl/fhof/angelman.htm Hollantilaisen Frank van Hofin sivuilla on mm. Angelman-lasten valokuvagalleria ja amerikkalaisen Martha Sprowlesin kirjoittama viesti uusille Angelman-perheille. http://chem-faculty.ucsd.edu/harvey/asfsite http://www.australianholidays.com/asa/asahome.htm Australian Angelman-yhdistyksen sivut. http://shell.idt.net/~julhyman/angel.htm Amerikkalainen Julie Hyman on koonnut mm. runoja ja niksikirjan "Angelman Syndrome From A to Z". http://www.multimania.com/angelman (uusi osoite 1.11.1999)

90. Daniel J. Driscoll, M.D., Ph.D., Faculty, Molecular Genetics And Microbiology, U Prenatal Diagnosis 20300306, 2000. Lossie, AC and Driscoll, DJ Transmission ofAngelman syndrome by an affected mother.genetics in Medicine 1262-266, 1999. http://www.mgm.ufl.edu/faculty/DDriscoll.htm

Your browser does not support script Daniel J. Driscoll, Professor Medical Genetics Postdoctoral Fellow, Johns Hopkins Hospital Pediatric Residency, Johns Hopkins Hospital M.D. Albany Medical College Ph.D. Indiana University School of Medicine M.S. Rutgers University A.B. Colgate University Board Certifications Pediatrics Medical Genetics - Clinical; Molecular; and Cytogenetics Awards and Professional Services NIH Predoctoral Trainee, Indiana University School of Medicine The Richard T. Beebe Award in Medicine, Albany Medical College NIH Postdoctoral Fellowship, The Johns Hopkins Hospital Finalist, Postdoctoral Basic Research Award, American Society of Human Genetics Basil O'Connor Starter Scholar Research Award, March of Dimes The John T. and Winifred M. Hayward Professorship in Genetics Research, University of Florida

91. AUTHORIZATION CHECK was less than the 3rd percentile at the time of his genetic evaluation at 6.7 15q11q13deletion, which is seen in 70% of individuals with angelman syndrome. http://aamr.allenpress.com/aamronline/?request=get-document&doi=10.1352/0895-801

92. Genome Research Tracks Down Bad Genes 06/98 the fundamental causes of two genetic conditions that, in humans, stem from chromosomes19 and 15 congenital nephrotic syndrome and angelman syndrome. http://www.pnl.gov/er_news/06_98/art2.htm

This issue... ER Briefly Inside ER A Proton Shaped Like Elvis? Bad Genes Working Science People E-mail Reminder This issue... ER Briefly Inside ER A Proton Shaped Like Elvis? Bad Genes Working Science People E-mail Reminder Genome Research Tracks Down Bad Genes by Kathy Blanchard Gene discoveries this year offer hope for understanding the fundamental causes of two genetic conditions that, in humans, stem from chromosomes 19 and 15: congenital nephrotic syndrome and Angelman syndrome. These discoveries were made possible by advances in the U.S. Human Genome Project, launched a decade ago by ER's Office of Biological and Environmental Research and the National Institutes of Health. The goal of the Human Genome Project is to identify the estimated 70,000 to 100,000 human genes and construct maps of entire chromosomes. Genome research will ultimately reveal the complete ordering of the components that make up DNA, the heredity blueprint. The Human Genome Center at Lawrence Livermore National Laboratory has mapped most of chromosome 19 and has sequenced, or ordered, the base pairs for about 6.2 million of the chromosome's 65 million bases. (Base pairs are combinations of proteins and enzymes that form the building blocks of DNA.) Using the genetic map of chromosome 19, scientists at Livermore and in Sweden (Karolinska Institute, Stockholm) and Finland (University of Oulu, Oulu) collaborated to locate the gene that causes congenital nephrotic syndrome, a deadly kidney disease. Congenital nephrotic syndrome, which is most prevalent in Finland, causes massive amounts of protein to be excreted from the body and usually leads to death by age 2. Scientists at the Human Genome Center used their detailed chromosome 19 map to locate many of the genetic markers used by the European researchers to analyze families with the disease. Eventually, through additional family studies and identification of more genetic markers, the search for the disease gene was narrowed to a region of about one million base pairs and finally to 150,000 base pairs. The European researchers then found and began analyzing 11 possible genes that could be responsible for the disease.

93. Exploring Autism Diagnosing a genetic condition also enables health care providers to both chromosome15 (specifically 15q11q13, the Prader-Willi/angelman syndrome region). http://www.exploringautism.org/autism/evaluation.htm

What is Autism? Genetic Conditions Associated with Autistic Disorder Autistic disorder and other PDDs are due in large part to genetic factors. In some instances, autistic disorder is a feature of an identifiable genetic condition. More frequently, however, no underlying specific cause can be determined (this is called idiopathic autism, meaning autism of unknown cause). There is a great deal of evidence that idiopathic autism is caused by changes or "mutations" in genes. However, these genes have not yet been identified. An estimated 10 to 15 percent of individuals with autistic disorder have an identifiable genetic condition (Gillberg et al 1996; Rutter et al 1994). Recognizing a genetic condition is vital because it may alter treatment or therapy options. Diagnosing a genetic condition also enables health care providers to both estimate the chance of recurrence in other family members and discuss the availability of diagnostic testing for other family members. Numerous chromosome abnormalities have been reported in individuals with autism, most often involving chromosome 15 (specifically 15q11-q13, the Prader-Willi/Angelman syndrome region). Studies of individuals with idiopathic autism show the frequency of chromosome abnormalities to be less than 5 percent (Folstein et al 2001). Chromosome abnormalities may be passed from parent to child or can occur sporadically. A blood sample is all that is needed to create a karyotype for chromosome analysis. If a chromosome abnormality is identified, testing other family members is recommended. In some instances family members may be unaware that they have a chromosome abnormality because they carry a balanced rearrangement that produces no symptoms.

94. J Med Genet -- Abstracts: Watson Et Al. 38 (4): 224 Genet. Home page J ClaytonSmith and L Laan angelman syndrome a review of the clinicaland genetic aspects J. Med. Genet., February 1, 2003; 40(2) 87 - 95. http://dx.doi.org/10.1136/jmg.38.4.224

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Watson, P. Clayton-Smith, J. Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics J Med Genet 224-228 ( April ) Angelman syndrome phenotype associated with mutations in , a gene encoding a methyl CpG binding protein Pamela Watson a , Graeme Black a b , Simon Ramsden a , Margaret Barrow c , Maurice Super d , Bronwyn Kerr d , Jill Clayton-Smith a a Regional Genetic Service, St Mary's Hospital, Hathersage Road, Manchester M13 OJH, UK, b University Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester M13 9WH, UK, c Clinical Genetics Service, Leicester Royal Infirmary, Leicester LE1 5WW, UK, d Department of Paediatric Genetics, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK Correspondence to: Dr Clayton-Smith

95. Medical Genetics Barnes-Jewish Molecular Diagnostic Lab Information Sheet Download the PraderWilli and angelman Syndromes Test InformationSheet Adobe Acrobat PDF File Download the Medical genetics Test Request http://www.surgery.wustl.edu/bjcmdl/medgen.htm

Molecular Diagnostic Laboratory Medical Genetics Tests Offered Medium chain acyl CoA dehydrogenase (MCAD) Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) FMR-1 Gene Trinucleotide Repeat Analysis (Fragile X) Cystic Fibrosis (CF) ... Molecular Diagnostic Lab Home Page Medium chain acyl CoA dehydrogenase (MCAD) Direct Mutation Testing for MCAD Deficiency Screening utilizes polymerase chain reaction (PCR) and RFLP for detection of a point mutation (A985G) in exon 11 of the medium chain acyl CoA dehydrogenase (MCAD) gene. The base pair change creates a new recognition site for the restriction enzyme Nco I. View the MCAD Test Information Sheet Download the MCAD Test Information Sheet: Adobe Acrobat PDF File Download the Medical Genetics Test Request Form: Adobe Acrobat PDF File How To View Adobe Acrobat PDF Files More information about MCAD Testing can be found at The FOD (Fatty acid Oxidation Disorder) Network On-line Newsletter! Back to top Or Main Menu Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) Direct Mutation Testing for LCHAD Deficiency Screening utilizes polymerase chain reaction (PCR) and RFLP for detection of a point mutation (G1528C) in the long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) domain of the alpha subunit of the trifunctional protein at codon 474 (E474Q) in exon 15. The base pair change creates a new recognition site for the restriction enzyme Pst I.

96. GEMdatabase - Selected Title TITLE angelman syndrome. DESCRIPTION This review focuses on the diagnosis, management,and genetic counseling of patients and families with angelman syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=830

97. Angelman Syndrome angelman syndrome. happy puppet syndrome. angelman chat rooms syndrome. angelmansyndrome signs. constipation angelman syndrome. piles angelman syndrome. http://www.icongrouponline.com/health/Angelman_Syndrome_Ph.html

ICON Health Publications Official Health Sourcebooks ANGELMAN SYNDROME A Bibliography, Medical Dictionary, and Annotated Guide to Internet Research References (happy puppet syndrome) P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $48.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Angelman syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Related Conditions/Synonyms happy puppet syndrome Description This is a 3-in-1 reference book. It gives a complete medical dictionary covering hundreds of terms and expressions relating to Angelman syndrome. It also gives extensive lists of bibliographic citations. Finally, it provides information to users on how to update their knowledge using various Internet resources. The book is designed for physicians, medical students preparing for Board examinations, medical researchers, and patients who want to become familiar with research dedicated to Angelman syndrome. If your time is valuable, this book is for you. First, you will not waste time searching the Internet while missing a lot of relevant information. Second, the book also saves you time indexing and defining entries. Finally, you will not waste time and money printing hundreds of web pages.

98. Specialty Laboratories ::: We Help Doctors Help Patients 5 REFERENCES Lombroso PJ. genetics of childhood disorders XVI. angelman syndromea failure to process. J Am Acad Child Adolesc Psychiatry 2000;399313. Dan B http://www.specialtylabs.com/books/display.asp?id=1150

99. Prader-Willi Syndrome - Diagnostic Criteria, Links And Books The following criteria for a diagnosis of PraderWilli syndrome are based on Holmet al , 4. Short stature for genetic background by age 15 (in absence of http://www.isn.net/~jypsy/prader.htm

The following criteria for a diagnosis of Prader-Willi Syndrome are based on Holm et al. (Pediatrics 91, 398, 1993). Because infants and young children have fewer symptoms than older children and adults with PWS, the scoring system differs by age group. Major Criteria (Count as 1 point each) Neonatal and infantile central hypotonia with poor suck, gradually improving with age. Feeding problems in infancy with need for special feeding techniques and poor weight gain/failure to thrive. Excessive (crossing two centile channels) or rapid weight gain on weight-for-length chart after 12 months and before age 6; central obesity in the absence of intervention. Characteristic facial features with dolichocephaly in infancy, narrow face or bifrontal diameter, almond-shaped eyes, small-appearing mouth with thin upper lip, downturned corners of the mouth (three or more of these characteristics required). Hypogonadism-includes any of the following, depending on age: a.

100. Final Diagnosis -- Case 346 While our 2year-old patient has clinical features characteristic for Angelmansyndrome, evidence of a genetic defect should be taken into consideration to http://path.upmc.edu/cases/case346/dx.html

Final Diagnosis Angelman syndrome FINAL DIAGNOSIS: The to 1507del6 variant in the UBE3A gene is previously unreported and of the type expected to cause Angelman Syndrome (See discussion). DISCUSSION: Angelman syndrome is characterized by mental retardation, speech impairment, motor dysfunction, movement/balance disorder, and inappropriate laughter. Most patients present with microcephaly, delay in developmental milestones and absence of speech during the first year of life. One of the cardinal behavioral features of Angelman syndrome is a happy disposition with unprovoked laughter, hence the name "Happy Puppet Syndrome". Patients also demonstrate hypopigmentation with fair skin and blue eyes. While our 2-year-old patient has clinical features characteristic for Angelman syndrome, evidence of a genetic defect should be taken into consideration to establish a definitive diagnosis. Mechanisms of Angelman Syndrome Angelman syndrome is caused by deficiency of gene expression from the maternally inherited chromosome 15q11-q13 region, which is subjected to genetic imprinting. Four classes of genetic mechanisms have been described: maternal deletion, paternal uniparental disomy (UPD), imprinting defects (ID), and mutations within the UBE3A gene (Figures and The most common mechanism, which occurs in 70-75% of patients, is a large interstitial deletion of ~4Mb on chromosome 15q11-q13 (Figure

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