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Angelman Syndrome Genetics:     more detail

Angelman syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS, CGC Roggenbuck, 2005 Chromosomal abnormalities: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle, MS, CGC Bosworth, 2005 Prader-Willi Syndrome: and Other Chromosome 15q Deletion Disorders (NATO ASI Series / Cell Biology)

lists with details

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
    
    Extractions: Wednesday April 21, 2004 RS vs Angelman Syndrome [from Sep 97] Subj: Angelman Syndrome Date: 97-09-12 00:28:20 EDT Hi Rettneters - …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

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
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: 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 Turnaround Time

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
    
    Extractions: 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

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

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

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
    
    Extractions: This issue... ER Briefly Inside ER A Proton Shaped Like Elvis? Bad Genes Working Science People E-mail Reminder 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
    
    Extractions: 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
    
    Extractions: Genetics J Med Genet 224-228 ( April ) 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

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
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: (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
     
     Extractions: 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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