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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

Angelman Syndrome
Now there are many web sites about Angelman Syndrome, and the time has come to share the work. outdated, especially on the genetics part.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Facts About Angelman Syndrome
Consensus Criteria for Clinical Features in Angelman Syndrome Consistent (100%) Developmental delay, functionally severe
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Genetics 101 Of Angelman Syndrome
Charles A. Williams, M.D. 7/4/97 GENETICS 101 OF ANGELMAN SYNDROME I. Definitions
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Genetics 101 Of Angelman Syndrome
GENETICS 101 OF ANGELMAN SYNDROME. I. Definitions. Chromosome 15 The chromosomethat is abnormal in Angelman syndrome. We have 23 pairs of chromosomes,
http://asclepius.com/angel/genetics101.html

Extractions: I. Definitions: Chromosome 15 - The chromosome that is abnormal in Angelman syndrome. We have 23 pairs of chromosomes, one derived from each parent. There are 22 pairs that are numbered numerically from 1 to 22, the final pair is an X and Y. We receive one chromosome 15 from our mother and one chromosome 15 from our father. Chromosomes contain millions of molecules that are condensed together at the time of cell division and thus are able to be seen under the microscope. 15qll-13 Region - Chromosomes are divided into short arms and long arms and have a central segment called a centromere. The short arm is call "P" and the long arm is called "q". The "q" region is divided numerically into several segments and the q11 - 13 segment refers to an area that is toward the middle of the number 15 chromosome. It spans about 5-10 million nucleic acid molecules so this region includes many genes. It is the
Angelman Syndrome Foundation
ASF's Mission is to advance the awareness and treatment of Angelman Syndrome through education, information exchange and research.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Distinct Phenotypes Distinguish The Molecular Classes Of Angelman
Genetics J Med Genet 2001;38834845 ( December ) Distinct phenotypes distinguish the molecular classes of Angelman syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Distinct Phenotypes Distinguish The Molecular Classes Of Angelman
Genetics J Med Genet 2001;38834845 ( December ) Distinct phenotypes distinguish the molecular classes of Angelman syndrome
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Angelman Syndrome - Genetics Home Reference
What if I still have specific questions about Angelman syndrome? See How can I find a genetics professional in my area? in the Handbook.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Towards A Molecular Understandingof Prader-Willi And Angelman
Angelman syndromes Human Molecular Genetics 0.1% Angelman syndrome 70% 2% 20% These data are adapted from Nicholls et al. (5)
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Angelmann
Angelman Syndrome view 1209 KB version view 5 KB version
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
GeneReviews Angelman Syndrome
Your browser does not support HTML frames so you must view Angelman Syndrome in a slightly less readable form.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Angelman Syndrome - Genetics Home Reference
What are the genetic changes related to angelman syndrome? angelman syndromeis a complex genetic disorder that affects the brain and nervous system.
http://ghr.nlm.nih.gov/condition=angelmansyndrome

Extractions: Home What's New Browse Handbook ... Search Angelman syndrome On this page: Angelman syndrome is a complex genetic disorder that affects the brain and nervous system. Characteristic features of the condition include developmental delay or mental retardation, severe speech impairment, and problems with movement and balance (ataxia). People with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, excessive laughter, and hand-flapping movements. Some affected individuals also have unusually fair skin and light-colored hair. How common is Angelman syndrome?
Angelman Syndrome - References - Genetics Home Reference
used to develop the genetics Home Reference condition summary on angelmansyndrome. PraderWilli and angelman syndromes sister imprinted disorders.
http://ghr.nlm.nih.gov/condition=angelmansyndrome/show/References

Extractions: Home What's New Browse Handbook ... Search Angelman syndrome These sources were used to develop the Genetics Home Reference condition summary on Angelman syndrome. Last Comprehensive Review: September 2004 Published: September 9, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.
Facts About Angelman Syndrome
Genetic Basis of AS Table Genetic Classes of angelman syndrome genetics ofangelman syndrome. Am J Hum Genet 1999 65(1) 16.
http://asclepius.com/angel/asfinfo.html

Extractions: Contains detailed information and medical reference links about the genetic aspects of AS. In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome (AS) (1). He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published (2-8) but the condition was considered to be extremely rare and many physicians doubted its existence. The first reports from North America appeared in the early 1980s (9, 10) and within the last ten years many new reports have appeared (11-18). Dr. Angelman relates the following regarding his discovery of this syndrome (19). AS has been reported throughout the world among divergent racial groups. In North America, the great majority of known cases seem to be of Caucasian origin. Although the exact incidence of AS is unknown, an estimate of between 1 in 15,000 to 1 in 30,000 seems reasonable (16, 20).
The Health Library Genetics And Birth Defects
Facts About angelman syndromeangelman syndrome Foundation angelman syndromeGeneticsHome Reference, NLM angelman syndromeGeneReviews
http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetic_mca_ac.

Extractions: Diseases and Disorders Use these links to jump directly to your topic of interest in Genetics and Birth Defects: Genetics: General Genetics Gene Therapy Genetic Counseling Genetic Testing ... Genetics of Specific Diseases Birth Defects: General Birth Defects Cardiovascular Defects Connective Tissue Disorders Craniofacial Anomalies ... S - W Multiple Congenital Anomalies (#, A - C) Jump to: A B C D ... P Q R S T U ... W X Y Z 22q11 Deletion What is 22q?:International 22q11.2 Deletion Syndrome Foundation 22q and You Newsletter:Children's Hospital of Philadelphia 22q11.2 Deletion Syndrome:Genetics Home Reference, NLM 22q11.2 Deletion Syndrome:GeneReviews 22q13 Deletion 22q13 Deletion (Phelan-McDermid Syndrome):Chromosome 22 Central 22q13.3 Deletion Syndrome:GeneReviews Alstrom Syndrome Alstrom Syndrome:MedlinePlus Medical Encyclopedia Alstrom Syndrome:Alstrom Syndrome International Alstrom Syndrome:Genetics Home Reference, NLM Alstrom Syndrome:GeneReviews Andersen-Tawil Syndrome Cause of Rare Genetic Disorder Points to Faulty Ion Channel:Howard Hughes Medical Institute Correlation Between Long QT Syndrome And Andersen Syndrome:QTsyndrome.ch Andersen-Tawil Syndrome:Genetics Home Reference, NLM Andersen-Tawil Syndrome:GeneReviews Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Angelman Syndrome:Genetics Home Reference, NLM
Angelman Syndrome
Clinical features in angelman syndrome? The genetics of angelman syndrome?Is there a treatment for angelman syndrome? Education
http://people.zeelandnet.nl/fhof/angelman/asi.htm

Extractions: Research into 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 The diagnosis of AS is usually made by a paediatrician or clinical geneticist and is based on:
Angelman Syndrome
links to angelman syndrome national and international support groups, Journal of Medical genetics 56237238 (1995); International angelman syndrome
http://www.kumc.edu/gec/support/angelman.html

Extractions: Summary of AS genetics International Groups Australia: Angelman Syndrome Association , Australia Angelman Syndrome Association of South Australia , P.O. Box 2025, South Plympton SA 5038, Phone / Fax (08) 8371 4255, E-mail: simsclan@cobweb.com.au Austria: Belgium: Angelman Stichting België, Stephensonstraat 108, 1000 Brussel, België, Phone: +32 2 3755237 na 20 u. or +32 2 6732754 na 20 u. Brazil: Associação Sindrome de Angelman (ASA-Brazil) Canada: Canadian Angelman Syndrome Society, PO Box 37, Priddis, Alberta, TOL 1WO, Canada, Phone: (403) 9312415, E-mail: cass@cadvision.com China (Hong Kong): Choi San Chueh, Room A, Block 39, 16/F, Broadway, Mei Foo Sun Chuen, Kowloon, Hong Kong Denmark : Angelmanforeningen I Danmark, Østerskovvej 18, DK-4682 Tureby, DENMARK, Phone: +45 56 28 51 68, E-mail:
Genetic Conditions / Rare Conditions Information Site
Maintained by Medical genetics, University of Kansas Medical Center. Androgen insensitivity syndrome(s) Anorchia angelman syndrome Anopthalmia
http://www.kumc.edu/gec/support/

Extractions: Revised September 2, 2005 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
Angelman Syndrome
This resource contains a summary and bibliographical references of the review.Last revised in September 2004. angelman syndrome / genetics;
http://omni.ac.uk/browse/mesh/D017204.html

Extractions: low graphics Angelman Syndrome Angelman Syndrome / genetics broader: Chromosome Disorders other: Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome Down Syndrome Prader-Willi Syndrome ... Williams Syndrome NINDS Angelman syndrome information page This Web resource on Angelman syndrome (a neurological disorder) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of Angelman syndrome is provided, and available treatments, prognosis, and current research activities are all discussed. Links to related organisations are provided. This resource has a US focus. Patient Education Handout [Publication Type] Mental Retardation Angelman Syndrome ASSERT : Angelman Syndrome Support Education and Research Trust ASSERT is a UK based support group for parents and relatives of people with Angelman Syndrome (AS). ASSERT aims to raise awareness of this condition, fund research, act as a forum for communication between families of people with AS, provide information for doctors to use with families of newly diagnosed individuals, provide a 24 hour support line, and to forge links with overseas AS organisations. The site explains what AS is, discusses the diagnosis of AS, and provides access to ASSERT newsletters (in PDF, requiring Adobe Acrobat Reader). Details of ASSERT trustees are also included, along with links to other useful resources. Self-Help Groups Angelman Syndrome GeneReviews : Angelman syndrome Notes for physicians on Angelman syndrome (AS). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in September 1998 (updated November 2000), this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Last revised in September 2004.
Alagille Syndrome
other, angelman syndrome; BeckwithWiedemann syndrome; Branchio-Oto-Renal syndrome; Last updated in February 2005. Alagille syndrome / genetics;
http://omni.ac.uk/browse/mesh/D016738.html

Extractions: low graphics broader: Abnormalities, Multiple other: Angelman Syndrome Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome Cockayne Syndrome ... GeneReviews : Alagille syndrome Notes for physicians on Alagille Syndrome (Arteriohepatic Dysplasia, AHD) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during May 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Last updated in February 2005. Alagille Syndrome / genetics

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