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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)

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Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
angelman syndrome and PraderWilli syndrome are examples of disorders caused by Consult your physician or genetic counselor for more information
http://www.musckids.com/health_library/genetics/uniparen.htm

Extractions: Medical Genetics 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. 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)?
Angelman Syndrome
Summary of genetics of angelman syndrome. http//www.angelman.org/twopgGenetic.htm.For several decades the chromosome study of AS individuals revealed no
http://www.margaretkay.com/Angelman_Syndrome.htm

Extractions: Email: MJK@MargaretKay.com There is no standard course of treatment for Angelman syndrome. Physical therapy and adaptive devices may help patients with jerky gait. Early language evaluation and intervention is often recommended. Anticonvulsant medications may be prescribed for epilepsy. What is the prognosis?
Angelman's Syndrome (www.whonamedit.com)
angelman s syndrome A chromosome 15 disorder comprising microcephaly with mental American Journal of Medical genetics, New York, 1982, 11 453460.
http://www.whonamedit.com/synd.cfm/225.html

Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. The affected children have a happy disposition and laugh frequently for almost any reason and their movements are jerky like those of a marionette, or puppet. Inheritance is autosomal recessive. The most common age of diagnosis is between three and seven years when the characteristic behaviors and features become most evident.
Development And Neurobiology: Genetics Of Childhood Disorders: XVI. Angelman Syn
The contribution to human diseases of the genetic mechanism called imprintinghas been Individuals with angelman syndrome (AS) have severe motor and
http://info.med.yale.edu/chldstdy/plomdevelop/genetics/00julgen.htm

Extractions: J Am Acad Child Adolesc Psychiatry,39:7, 931-934 July 2000 Paul J. Lombroso, M.D. The contribution to human diseases of the genetic mechanism called imprinting has been discovered only during the past decade. Imprinting is not consistent with our previous understanding of how genes are expressed. Prior belief was that each gene in a cell had 2 alleles, one on the maternal and the other on the paternal chromosome. When a gene was turned on, both alleles were transcribed equally and functional protein was produced from both chromosomes. For the majority of genes, this is exactly what happens. However, when there is genetic imprinting, just 1 of the 2 alleles is expressed, while the other is silenced or "imprinted." Whether the allele is transcribed or not depends on whether it lies on the chromosome derived from the father or that derived from the mother. Angelman and Prader-Willi syndromes are 2 illnesses that exemplify this mechanism. The molecular basis for Prader-Willi was discussed in the last column. The molecular basis for Angelman will serve as the focus for the present column. I will review the clinical symptoms before turning to a discussion of the genetic basis for the disorder. Individuals with Angelman syndrome (AS) have severe motor and intellectual retardation. They are often hypotonic at birth, develop epilepsy soon thereafter, and rarely develop speech. They have unusual facies characterized by a large mandible and an open-mouthed expression. Additional features include an abnormal gait and puppet-like movements of their limbs. They are often described as "happy" children because of their frequent smiles and laughter. Several additional features include a facility for protruding their tongues, abnormal skin pigmentation, and a characteristic abnormal EEG discharge pattern.
Development And Neurobiology: Genetics Of Childhood Disorders: Genomic Imprintin
PraderWilli and angelman syndromes were the first disorders recognized as with angelman syndrome in whom the underlying genetic mechanism of their
http://info.med.yale.edu/chldstdy/plomdevelop/genetics/00margen.htm

Extractions: J Am Acad Child Adolesc Psychiatry,39:3, 386-389 March 2000 David B. Everman, M.D., and Suzanne B. Cassidy, M.D. Genomic imprinting refers to a process that distinguishes paternally derived chromosomes from maternally derived chromosomes. Imprinting plays a critical role in gene expression, mammalian development, and human disease. However, the biological requirement for imprinting remains a mystery. In the first 2 columns on the topic, we will review how imprinting was initially identified, present some hypotheses about the mechanisms of imprinting, and speculate on the evolutionary forces maintaining this phenomenon. The subsequent 2 columns will discuss the molecular bases for 2 disorders in which imprinting is involved, namely, Prader-Willi and Angelman syndromes. Genomic imprinting might be considered the exception that proves the rule. Until the late 1980s, Gregor Mendel¹s laws of inheritance were thought to be inviolate. All autosomal genes were believed to be expressed equally, regardless of whether they were inherited from the mother or the father. For most genes, this is true. However, it is now recognized that a small subset of genes are violators of Mendel¹s laws and are expressed differently depending on the parent from whom they are inherited. As a result of this differential methylation, the maternally inherited copy of an imprinted DNA segment differs from the paternally inherited copy. What has recently been discovered is that these differences may also be reflected in differences in gene expression, even though the nucleotide sequences of the 2 segments are identical. The imprinting process leads to an inactivation of either the paternally or maternally inherited copy of some genes within some of the body¹s cells. Genetic mutations that change this pattern and lead to either increased or decreased expression of imprinted genes may upset the normal amounts of proteins that are expressed.
Angelman Syndrome - Happy Puppet Syndrome - Information Page With HONselect
click below to enlarge angelman syndrome medgen.genetics.utah.edu Copyright ©Medical genetics angelman syndrome click below to enlarge Possible
http://www.hon.ch/HONselect/RareDiseases/EN/C10.228.662.075.html

Extractions: Angelman Syndrome Definition: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION , and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms ( SPASMS, INFANTILE ); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA MUSCLE HYPOTONIA ; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
Your Child | Angelman Syndrome
angelman syndrome (AS) is an inherited neurological disorder resulting in severe Angelanda site for siblings of angelman kids. genetics and genetic
http://www.med.umich.edu/1libr/yourchild/angels.htm

Extractions: What is Angelman syndrome? Angelman syndrome (AS) is an inherited neurological disorder resulting in severe learning difficulties, developmental delay, and typical facial appearance and behavior. The most common age of diagnosis with Angelman syndrome is between three and seven years when the signs become most evident. AS affects about 1 in 25,000 children. To learn more about genetics and to better understand how genes cause syndromes, see Your Child: Genetic Syndromes Where can I find more information and support? Your Child: Genetic Syndromes Your Child: Chronic Conditions Your Child: Developmental Delay Your Child: Learning Disabilities Your Child: Siblings of Children with Special Needs The Angelman Syndrome Foundation (ASF) promotes education, information exchange and research.
Angelman Syndrome
Molecular genetics of angelman syndrome National Library of Medicine geneticsHome Reference angelman syndrome; NCBI Genes and Disease angelman syndrome
http://www.geneclinics.org/profiles/angelman/details.html

Extractions: 3 September 2004 Disease characteristics. Angelman syndrome (AS) is characterized by: 1) severe developmental delay or mental retardation; 2) severe speech impairment; 3) gait ataxia and/or tremulousness of the limbs; and 4) a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly and seizures are common. Diagnosis/testing. The diagnosis of Angelman syndrome rests upon a combination of clinical features and molecular genetic testing and/or cytogenetic analysis. Consensus clinical diagnostic criteria for AS have been developed. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 78% of individuals with AS, including those with a deletion uniparental disomy , or an imprinting defect; fewer than 1% of individuals have a cytogenetically visible chromosome rearrangement (i.e.
Angelman Syndrome Foundation: Facts About Angelman Syndrome
Table Genetic Classes of angelman syndrome genetics of angelman syndrome.Am J Hum Genet 1999 65(1) 16. Clayton-Smith J. Clinical research on
http://www.angelman.org/angel/index.php?id=75
Angelman Syndrome Foundation: Features, Diagnosis, Genetics
features and diagnosis or angelman syndrome, as well as information on thegenetics. Summary of Clinical Features and Diagnosis of angelman syndrome
http://www.angelman.org/angel/index.php?id=115
Welcome To Bridges4kids.org!
genetics 101 of angelman syndrome (by Charles A. Williams, MD) Earlier in2002, Tyler was diagnosed with angelman syndrome, a genetic disorder that
http://www.bridges4kids.org/Disabilities/Angelman.html

Extractions: Early On Lead Poisoning Positive Behavior Support No Child Left Behind ... LDA of Michigan Where to find help for a child in Michigan Anywhere in the U.S. , or Canada What's New? Help Text Menu ... Translate Last Updated: Disability Information - Angelman Syndrome General Information Articles Related to this Disability Medical Information Personal Home Pages ... report a bad link General Information Angelman Syndrome Symptoms of Angelman syndrome include unstable jerky gait, hand flapping, unusually happy demeanor, developmental delay, lack of or diminished speech, and microcephaly (small head). Epilepsy may develop in the early years of life, however it may decrease with age. Patients may also have balance problems. Is there any treatment?
Angelman Syndrome - The Knowledge Database Of The Swedish National Board Of Heal
It is rare for more than one child in a family to have angelman syndrome.Because the genetics of angelman syndrome may be complex, it is advisable to
http://www.sos.se/smkh/2003-110-11/2003-110-11.htm

Extractions: The Board classifies its publications into different types of document. This is a Review of knowledge . This means that the report is based on science and/or tried and tested experience. Reviews of knowledge shall, among other things, support knowledge-based care and treatment, method development and other work for improvement; shall stimulate and facilitate quality assurance and effective use of resources and/or elucidate effects of distribution. The Board is responsible for contents and conclusions. The disease/injury/diagnosis Article number: 2003-110-11 English index Search The aphabetical list This is an excerpt from the database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders resulting in extensive disability whick affect no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide information to the public, including patients and their families, as well as to health professionals. Harry Angelman, a British paediatrician, described three children in 1965 who were all developmentally delayed/mentally retarded, very physically similar to each other, and had very cheerful smiles. Because these children have a happy appearance and a jerky, marionette-like gait, the early description was "Happy puppet children".
Human Genetics - UPD Paternal Chromosome 15
Stalker, HJ;Williams, CA (1998) Genetic counseling in angelman syndrome thechallenges of multiple causes see comments. Am J Med Genet 77( 1) 549
http://genes.uchicago.edu/upd/upd15p.html

Extractions: Chromosome 15. The paternal chromosome is shown on the left. An imprinting effect is certain. Annotated UPD Reference List for Maternal Chromosome 15 Bottani, A.;Robinson, W. P.;DeLozier-Blanchet, C. D.;Engel, E.;Morris, M. A.;Schmitt, B.;Thun-Hohenstein, L.;Schinzel, A. (1994): Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? [see comments]. Am J Med Genet 51( 1): 35-40 Abstract Freeman, S. B.;May, K. M.;Pettay, D.;Fernhoff, P. M.;Hassold, T. J. (1993): Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome. Am J Med Genet 45( 5): 625-30 Abstract Fridman, C.;Varela, M. C.;Nicholls, R. D.;Koiffmann, C. P. (1998): Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q. Clin Genet 54( 4): 303-8 Abstract Jacobsen, J.;King, B. H.;Leventhal, B. L.;Christian, S. L.;Ledbetter, D. H.;Cook, E. H., Jr. (1998): Molecular screening for proximal 15q abnormalities in a mentally retarded population. J Med Genet 35( 7): 534-8 Abstract Jiang, Y.;Tsai, T. F.;Bressler, J.;Beaudet, A. L. (1998): Imprinting in Angelman and Prader-Willi syndromes.
Department Of Human Genetics - Clinical Laboratory And Patient Services
Clinical Genetic Testing Services. angelman syndrome Testing Forms and Documentation.Genetic mechanisms that result in AS include
http://genes.uchicago.edu/clinic/ASTest.html

Extractions: M-PCR is a rapid, inexpensive test to identify individuals with AS due to deletions of 15q11-q13, UPD15, or imprinting abnormalities. Typically, chromosome analysis is performed in conjunction with M-PCR to rule out translocations involving 15q11-q13, which are rare in AS, or other chromosomal abnormalities. For a patient identified as having AS by M-PCR, additional testing is required to determine if the individual has a deletion, paternal UPD15, or an imprinting mutation and to provide thorough genetic counseling. A normal M-PCR result does NOT rule out Angelman syndrome as patients with UBE3A mutations will not be detected by the M-PCR assay. Our laboratories offer chromosome analysis, FISH analysis for deletions of 15q11-q13, polymorphic microsatellite analysis for UPD15, real-time quantitative PCR (RT-QPCR) for imprinting center deletion analysis, and UBE3a sequencing. This fax includes sample submission instructions and paperwork for these tests. Sample specifications, fees, CPT codes, and turnaround times for each test are listed on the following page. Prenatal
MyDNA.com - Angelman Syndrome
myDNA is a consumer focused health, genetics, and genomics information provideroffering angelman syndrome (AS) is an uncommon neurogenetic disorder
http://www.mydna.com/genes/genetics/disorders/disease/nervous/angelman.html

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SpeechPathology.com: Communication And Prognosis In Angelman's Syndrome
We have a question about angelman s syndrome and speech and language development genetics and Mental Retardation syndromes A New Look at Behavior and
http://www.speechpathology.com/askexpert/display_question.asp?id=8
Genetics And Molecular Biology -
Phenotypic and behavioral variability within angelman syndrome group with UPD further genetic and clinical studies in four angelman syndrome patients.
http://www.scielo.br/scielo.php?pid=S1415-47572002000200002&script=sci_arttext&t
Genetics And Molecular Biology -
ClaytonSmith J (1993) Clinical research on angelman syndrome in the United further genetic and clinical studies in four angelman syndrome patients.
http://www.scielo.br/scielo.php?pid=S1415-47572002000100003&script=sci_arttext&t
UBE3A/E6-AP Mutations Cause Angelman Syndrome - Nature Genetics
1Genetics Division, Children s Hospital and Harvard Medical School, 300 LongwoodAvenue, Familial cryptic translocation resulting in angelman syndrome
http://www.nature.com/ng/journal/v15/n1/abs/ng0197-70.html

Extractions: doi:10.1038/ng0197-70 Tatsuya Kishino , Marc Lalande Genetics Division, Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts 02115, USA. Howard Hughes Medical Institute, Boston, Massachusetts, USA. e-mail: wagstajf@al.tch.harvard.edu. Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is one of the best examples of human disease in which genetic imprinting plays a role1. In about 70% of cases, AS is caused by de novo mutations in nondeletion/non-UPD/non-imprinting mutation (NDUI) AS patients and have found one patient who is heterozygous for a 5-bp de novo tandem duplication. We have also found in two brothers a heterozygous mutation, an A to G transition that creates a new 3' splice junction 7 bp upstream from the normal splice junction. Both mutations are predicted to cause a frameshift and premature termination of translation. Our results demonstrate that mutations are one cause of AS and indicate a possible abnormality in ubiquitin-mediated protein degradation during brain development in this disease.
The Imprinting Box Of The Prader-Willi/Angelman Syndrome Domain - Nature Genetic
The imprinting box of the PraderWilli/angelman syndrome domain 1 Departmentof Cellular Biochemistry and Human genetics, The Hebrew University Hadassah
http://www.nature.com/ng/journal/v26/n4/abs/ng1200_440.html

Extractions: doi:10.1038/82571 Ruth Shemer , Alon Y. Hershko , Jonathan Perk , Raul Mostoslavsky , Ben-zion Tsuberi , Howard Cedar , Karin Buiting Department of Cellular Biochemistry and Human Genetics, The Hebrew University Hadassah Medical School, Jerusalem, Israel. Institute for Human Genetics, University Clinic, Essen, Germany. Correspondence should be addressed to Aharon Razin razina@md2.huji.ac.il SNRPN promoter/exon1, cause PWS and silence paternally expressed genes . Microdeletions on the maternal allele share a 0.88-kb SRO located 35 kb upstream to the SNRPN promoter , cause AS and alleviate repression of genes on the maternal allele . Individuals carrying both AS and PWS deletions on the paternal allele show a PWS phenotype and genotype. These observations suggest that cis elements within the AS-SRO and PWS-SRO constitute an imprinting box that regulates the entire domain on both chromosomes. Here we show that a minitransgene composed of a 200-bp

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