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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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Library & Information Network For The Community
angelman syndrome a review of the clinical and genetic aspects. angelmansyndrome in adulthood. American Journal of Medical genetics, 66(3), 356360.
http://cdd.unm.edu/linc/bibliographies/Angelman Syndrome.htm

Extractions: Bibliography on Angelman Syndrome Prepared January 2004 The purpose of this bibliography is to help consumers and professionals identify books, journal articles, journal titles, articles on the web, and/or web sites, that discuss the subject of Angelman Syndrome. Not all of the listed materials are owned by LINC, and, not all of the materials have been reviewed by staff. Materials have been included based on publication date and perceived relevancy, and includes those publications from 1990-2003. Angelman Syndromea medical dictionary, bibliography and annotated research guide to Internet references. San Diego, Calif.: Icon Group International, Inc. Dykens, Elisabeth, Hodapp, Robert M. Genetics and mental retardation syndromes: a new look at behavior and interventions. Towson, MD: Paul H. Brookes Publishing Company. Evans, Ashleigh; Evans, Alice; Schilling, Diane. (1995). Angel lady Del Mar, CA: Sea View Publications. (Juvenile literature.) Hagerman, Randi Jenssen. (1999). Neurodevelopmental disorders: diagnosis and treatment. New York: Oxford University Press.
Autism -- Sign In Page
The aim was to explore the comorbidity between angelman syndrome and autism Classes of angelman syndrome , Journal of Medical genetics 38 834845 .
http://aut.sagepub.com/cgi/content/refs/8/2/163
Congenital, Hereditary, And Neonatal Diseases And Abnormalities
angelman syndrome Information UK Support Group via F van Hof (NL) Naevoid BasalCell Carcinoma syndrome - Atlas of genetics Cytogenetics in Oncology
http://www.mic.ki.se/Diseases/c16.html

Extractions: Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com
Entrez PubMed
Adult; angelman syndrome/genetics*; Child, Preschool; Chromosomes, Human, Pair15/genetics; DNA Methylation; Female; Genomic Imprinting/genetics*; Humans
http://www.reproductive-health-journal.com/pubmed/12549484

Extractions: My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: Am J Hum Genet.
RS Vs Angelman Syndrome - From Sep 97 To Apr 98
Kelsey had the test for angelman syndrome. She was ruled out as having it. Just to clarify that the genetics of angelmans syndrome is fairly complicated
http://www.rettsyndrome.org/digests/00028.htm

Extractions: Thursday September 08, 2005 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...
AAFP Core Educational Guidelines - July 1999 - American Academy Of Family Physic
Uniparental disomy (PraderWilli syndrome, angelman s syndrome) Terminologyused in medical genetics (mosaicism, incomplete penetrance,
http://www.aafp.org/afp/990700ap/core.html

Extractions: This document has been endorsed by the American Academy of Family Physicians and was developed in cooperation with the American College of Medical Genetics, the Association of Professors of Human and Medical Genetics, the Association of Departments of Family Medicine, the Association of Family Practice Residency Directors and the Society of Teachers of Family Medicine. Attitudes The resident should develop attitudes that encompass the following: Recognition of the importance of the family physician, the medical geneticist and the genetics team as collaborators in the evaluation, diagnosis and management of patients referred for genetic consultation. Recognition of the need for sensitivity to the patient's and family's concerns relating to referral for genetic evaluation and diagnosis of a genetic disorder. Recognition of the importance of confidentiality, ethical and legal issues involved in medical genetics.
Angelman Syndrome: Information From Answers.com
angelman syndrome angelman syndrome (AS) is neurological disorder in which severelearning difficulties are imprinting (genetics), PraderWilli syndrome
http://www.answers.com/topic/angelman-syndrome

Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Angelman syndrome Wikipedia Angelman syndrome Angelman syndrome (AS) is neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behavior. Dr. Harry Angelman , a pediatrician working in Warrington Cheshire , first reported three children with this condition in . It was initially presumed to be rare. In , it was first noted that around half of the children with AS have a small piece of chromosome 15 missing ( chromosome 15q partial deletion ). Since this time the condition has been reported more frequently and the incidence is now thought to be 1 in 25,000 children. AS is due to abnormal expression of a group of genes on chromosome 15 . It is likely that at least one of these genes controls development of the brain, especially the parts associated with language, movement and pigmentation. It seems also that some genes influence chemical transmission of messages within the brain. The gene of Angelman syndrome (part of the ubiquitin pathway) is expressed only on the maternal chromosome. The first seven genes in the segment, whose deletion causes
Connotea: Vferraz's Bookmarks Matching Tag "angelman Syndrome"
angelman syndrome axenfeldrieger bunitinha clinical genetics communitarygenetics vferraz s bookmarks matching tag angelman syndrome
http://www.connotea.org/user/vferraz/tag/angelman syndrome

Extractions: Home Latest News ... Contact Us By Usage Ablepharon-macrostom... Angelman angelman syndrome ... therapy vferraz vferraz's bookmarks matching tag "angelman syndrome" Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman syndromes. info J M de Pina-Neto et al. Arq Neuropsiquiatr Jun 1997 PMID: 9629378 Posted by vferraz (who is an author) to angelman syndrome prader-willi syndrome on Thu Mar 03 2005 at 01:27 UTC A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. info Greice Andreotti De Molfetta et al. Arq Neuropsiquiatr Dec 2002 PMID: 12563398 Posted by vferraz (who is an author) to prader-willi syndrome genomic imprinting angelman syndrome on Thu Mar 03 2005 at 01:24 UTC Add a bookmark Create a new group Create a tag note Rename a tag ... Edit my registration
N.C.M.G Ireland | Angelman Syndrome Service Description.
The National Centre for Medical genetics provides a comprehensive service forall patients and families in the Republic of Ireland affected by or at risk of
http://www.genetics.ie/molecular/as/

Extractions: @import "../../css/layout.css"; home molecular genetics Angelman Syndrome Angelman Syndrome ( AS ) is characterised by severe developmental delay/mental retardation, gait ataxia, seizures, inappropriate laughter and happy disposition. Approximately 77% of patients have abnormal imprinting patterns within the 15q11-q13 region, caused by of lack of expression of the maternal allele. The mechanisms which give rise to loss of maternal contribution are deletions of the15q region on the maternal chromosome, paternal uniparental disomy ( UPD ) or an imprinting defect. Approximately 23% of true AS patients have mutations in the UBE3A gene and other genes. Such cases are associated with a significant risk of recurrence , estimated at between 20% and 50%. In addition to supplying standard patient and referral information, the following should be clearly indicated: Any family history, including names, dates of birth and genetics test results if available. The genetic diagnostic test detects the presence or absence of the maternal chromosome in the critical disease region 15q11-13. The absence of a maternal contribution confirms a diagnosis of
Genetics Of PWS
Genetic Tests Used To Diagnose PraderWilli syndrome Diagnostic Testing forPrader-Willi and angelman syndromes Report of the ASHG/ACMG Test and
http://www.pwsausa.org/syndrome/Genetics_of_PWS.htm

Extractions: (Originally published in PWSAs The Gathered View by Linda Keder, former editor, March-May 2000. Revised and updated in July 2004 with the assistance of Merlin G. Butler, M.D. Ph.D., Chair, PWSA-USA Scientific Advisory Board.) When the medical world first learned about Prader-Willi syndrome in 1956, doctors had no idea what caused people to have this collection of features and problems that we now know as PWS. In 1981, Dr. David Ledbetter and his colleagues reported a first breakthrough discovery: Many people with PWS that they studied had the same segment of genes missing from one of their chromosomes. They had discovered the deletion on chromosome 15 that accounts for about 70 percent of the cases of PWS. Since then, researchers have made a series of other important discoveries about the genes involved in Prader-Willi syndrome. Thanks to their perseverance, we now know much more about the several genetic forms of this complex disorder, and we have genetic tests that can confirm nearly every case. Changes or errors in genes and chromosomes are common in the formation of egg and sperm cells. Some of these genetic changes will have no effect when a baby is conceived; some will cause a miscarriage; and some, like those in Prader-Willi syndrome, will cause significant differences in how the baby develops and functions. While many genetic disorders are caused by a change in a single gene and can be passed down from parent to child, PWS is more complicated.
Angelman Syndrome NeuroLearn NeuroHelp Neurodevelopmental
Summary angelman syndrome is also known as the Happy puppet syndrome . genetics 1977 1570; Sutcliffe JS et al., Genome Res 1997 7368; Albrecht U et
http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNP2IE02.htm

Extractions: Angelman syndrome NeuroLearn NeuroHelp Neurodevelopmental Disorders Background ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Summary: Angelman syndrome is also known as the "Happy puppet syndrome". These patients are euphoric, frequently simile and with paroxysms of laughter. They also have unusual but characteristic posture characterized by flexion at the wrists and elbows when the arms are raised such that they resemble on a string. Clinically the patients have developmental delay and severe mental retardation, ataxia, seizure, hypotonia, postnatally developing microbrachyencephaly, and a characteristic facial appearance with macrostomia and prognathia. Abnormalities in the cerebrum have been revealed by Golgi impregnantation but very few cases have been studied histologically. Physical Features/Clinical: Craniofacial: Midface hypoplasia, a large mouth, deep-set eyes and mandibular prognathism (a promient chin). Macrostomia (large tongue) is present in childhood. Many patients have a depression in the occipital bone near the posterior fontanelle which is palpable as a horizontal groove with prominent occipital condyle bilaterally. Typical posture of the upper limbs: They have unusual but characteristic posture characterized by flexion at the wrists and elbows when the arms are raised such that they resemble on a string.
Diagnostic Testing For Prader-Willi And Angelman Syndromes
American Society of Human genetics/American College of Medical genetics Test angelman syndrome (AS) is a clinically distinct disorder from PWS that can
http://www.acmg.net/resources/policies/pol-024.asp
Entrez PubMed
angelman syndrome/diagnosis; angelman syndrome/genetics*; Animals; Brain/metabolism;Chromosomes, Human, Pair 15; Humans; Ligases/genetics
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Library Pages For X, Y, Rings, Syndromes, Misc.
Patients with angelman syndrome resulting from DNA deletion, J. Medical genetics1996 angelman syndrome in Adulthood, Am Journal of Medical genetics 1996.
http://www.chromodisorder.org/sytrix/card_list.php3?dbid=82&id=209
Library Pages For X, Y, Rings, Syndromes, Misc.
with angelman syndrome resulting from DNA deletion, J. Medical genetics 1996angelman syndrome in Adulthood, Am Journal of Medical genetics 1996
http://www.chromodisorder.org/sytrix/card_list.php3?dbid=82&maxlist=10
Exploring Autism
known association with angelman syndrome, a genetic disorder which share some Linkage disequilibrium at the angelman syndrome gene UBE3A in autism
http://www.exploringautism.org/genetics/chrom15.htm

Extractions: Exploring Chromosome 15 For more than 12 years, scientists have noticed that some individuals with autism also have a chromosomal change involving a specific part of chromosome 15 (a region known as chromosome 15q11-q13). These individuals have extra copies (referred to as duplications) of this region on chromosome 15. This finding suggests that these duplications on chromosome 15 may contribute to the development of autism. Researchers have found small segments of DNA (referred to as markers) on chromosome 15 that are seen more frequently in individuals with autism (who by chromosomal analysis have been found not to have an obvious chromosome rearrangement) than in individuals without autism. This statistical effect can only be observed when a group of individuals with autism are studied together. This finding strongly suggests that a gene that contributes to autism is in this region, but the actual gene has not yet been found. The GABA genes Research suggests that another region on chromosome 15 contains gene(s) that contribute to the development of autistic disorder. There are several candidate genes for autistic disorder in this region, including three GABA receptor subunit genes: GABRB3, GABRA5 and GABRG3. These genes contain instructions for making proteins that together form GABA receptors. GABA (g-aminobutyric acid) is a chemical that carries messages between nerve cells. It is in a group of chemicals called neurotransmitters. Research has not found an association between the GABRA5 gene and autistic disorder. However, research suggests that the GABRB3 and GABRG3 genes may be associated with autistic disorder. Further analysis of the GABRB3 and GABRG3 genes is needed to better understand its function and possible association with autistic disorder.
Entrez PubMed
angelman syndrome/genetics*; Animals; Base Sequence; Chromosomes, Human, Pair 15;Conserved Sequence; Hominidae/genetics*; Humans; In Situ Hybridization,
http://genomebiology.com/pubmed/7666455

Extractions: My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: J Mol Evol.
Tokyo Medical University Genetics Prader-Willi Syndrome References
American Society of Human genetics/American College of Medicalgenetics Test Greenstein, MA PraderWilli and angelman syndromes in one kindred with
http://www.tokyo-med.ac.jp/genet/pws/pwsjref.htm

Extractions: 3. Buiting, K.; Dittrich, B.; Gross, S.; Greger, V.; Lalande, M.;Robinson, W.; Mutirangura, A.; Ledbetter, D.; Horsthemke, B. : Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum. Molec. Genet. 4. Burke, C. M.; Kousseff, B. G.; Gleeson, M.; O'Connell, B. M.; Devlin,J. G. : Familial Prader-Willi syndrome. Arch.Intern. Med.
Pathology Molecular Genetics Angelman Syndrome
All Children s Clinical Molecular genetics provides diagnostic genetic servicesincluding direct mutation detection, linkage analysis and automated DNA
http://www.allkids.org/services/Pathology/Pages/Molecular_Genetics_Angelman_Synd

Extractions: 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%).
University Hospitals Of Cleveland
genetics of angelman syndrome. Am J Hum Genet 1999; 6516. For even moreinformation , please call the Center for Human genetics Laboratory at (216)
http://www.uhhs.com/DisplayContent.aspx?PageID=172&GNAV=HCSERVICES&MID=8

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