1. Angelman Syndrome - Genetics Home Reference Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual http://ghr.nlm.nih.gov/condition=angelmansyndrome

About Site Map Contact Us Search A service of the Home Conditions Genes Chromosomes ... Resources Angelman syndrome Related Chromosome(s) Related Gene(s) References Quick links to this topic MedlinePlus Health information Genetic and Rare Diseases Information Center Information about genetic conditions and rare diseases Additional NIH Resources National Institutes of Health Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature Online Books Medical and science texts OMIM Genetic disorder catalog Genetic Conditions Angelman syndrome On this page: Description Genetic changes Inheritance Treatment ... Glossary definitions Reviewed July 2009 What is Angelman syndrome? Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity and a short attention span are common. Most affected children also have difficulty sleeping and need less sleep than usual. Some affected individuals have unusually fair skin and light-colored hair.

2. What Is Angelman Syndrome? - About Learning Disabilities (UK) different functions throughout our body, but it is the way in which chromosome 15 functions in the brain that leads to the behaviours associated with Angelman syndrome. Genetics http://www.aboutlearningdisabilities.co.uk/what-angelman-syndrome.html

Home Types of Disabilities What is Angelman Syndrome? What is Angelman Syndrome? Angelman syndrome is a rare genetic condition, the symptoms of which include severe learning difficulties, jerky movements and a happy disposition. Around 48 years ago, English physician Harry Angelman first described the condition that would later bear his name. However, the prevalence of Angelman syndrome was low and debate over its existence continued for many years. Angelman syndrome is generally considered to be a chromosomal disorder. Most cases can be traced to the partial deletion of a gene on chromosome 15. Chromosomes perform different functions throughout our body, but it is the way in which chromosome 15 functions in the brain that leads to the behaviours associated with Angelman syndrome. Genetics Everyone inherits chromosomes and genetic material from their mother and father. In the case of chromosome 15, the parts contributed by each parent function in different ways. For instance, only the maternal copy is active in the brain. If the mother's contribution to this particular chromosome has been deleted or, in some cases, replaced by a copy of the father's contribution, then this can result in Angelman syndrome. There is no known cause for this genetic abnormality. It is thought to happen when an unknown factor randomly goes awry in the normal reproductive process. The condition is not passed on from parent to child, nor does it run in families. Diagnosis of the syndrome usually occurs between the ages of three and seven. Development is delayed even at the youngest ages, but usually becomes apparent by the age of six months. The characteristic features of Angelman syndrome often take a few years to become noticeable. It is worth knowing that once the syndrome is diagnosed, genetic tests are commonly used to confirm the diagnosis.

3. Angelman Syndrome Foundation, Inc. – Research, Genetic Counseling, Diagnosis, Information for doctors and families. Research, activities and groups. http://www.angelman.org/

4. Angelman Syndrome - Wikipedia, The Free Encyclopedia Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping http://en.wikipedia.org/wiki/Angelman_syndrome

Angelman syndrome From Wikipedia, the free encyclopedia Jump to: navigation search Angelman syndrome Classification and external resources ICD Q ICD OMIM ... MeSH Angelman syndrome (AS) is a neuro- genetic disorder characterized by intellectual and developmental delay , sleep disturbance, seizures , jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genomic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The sister syndrome, Prader-Willi syndrome , is caused by a similar loss of paternally-inherited genes and maternal imprinting. AS is named after a British pediatrician , Dr. Harry Angelman , who first described the syndrome in 1965. An older, alternative term for AS, happy puppet syndrome , is generally considered pejorative and stigmatizing so it is no longer the accepted term, though it is sometimes still used as an informal term of diagnosis. People with AS are sometimes known as "angels", both because of the syndrome's name and because of their youthful, happy appearance. Contents History Prevalence Pathophysiology Clinical features ... edit History "Boy with a Puppet" or "A child with a drawing" by Giovanni Francesco Caroto Dr. Harry Angelman, a pediatrician working in

5. Search Angelman syndrome Genetics Home Reference Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. http://kf.mysearch.myway.com/search/redirect.jhtml?qid=E37A07A956D308487C983A583

6. Angelman Syndrome Genetics - Autism-World In the majority of families there is only one individual affected by Angelman syndrome. In these families the affected person usually has a piece of one of their chromosome 15s http://www.autism-world.com/index.php/2007/09/01/angelman-syndrome-genetics/

All about Autism Spectrum Disorders Autism-World Home About Us Guestbook ... Angelman syndrome Genetics September 1st, 2007 In the majority of families there is only one individual affected by Angelman syndrome. In these families the affected person usually has a piece of one of their chromosome 15s missing ( deletion ). Deletions can be detected down the microscope or by looking at a persons DNA, their genetic material using special techniques in the laboratory. In cases with a chromosome 15 the parents chromosome are usually absolutely normal. Neither parent is a carrier Angelman syndrome but the deletion in the child usually arises by chance on the chromosome 15 which came from the mother. If a similar deletion arises on the chromosome 15 which comes from the father, then a completely different condition called Prader-Willi syndrome results. Technorati Angelman syndrome This entry was posted on Saturday, September 1st, 2007 at 3:49 pm and is filed under Angelman Syndrome Add to: del.icio.us

7. Newswise Latest News: News And Press Releases In Science, Medicine, Life, And Bu Story Ideas From Oak Ridge National Laboratory. 1) Technology Transfer the Wonder Hinge, 2) Genetics Angelman Syndrome Model Developed, 3) Energy Popeye Power, 4) Physics http://newswise.com/articles/list?page=8856&search[status]=3&search[sort

8. Inheritance And Genetics Of Angelman Syndrome - WrongDiagnosis.com Angelman syndrome Genetics Information. Genetics of Angelman syndrome The genetic basis of AS is very complex, but the majority of cases are due to a deletion of segment 15q11 http://www.wrongdiagnosis.com/a/angelman_syndrome/inherit.htm

9. Genetic Changes Of Chromosome Region 15q11-q13 In Prader-Willi And and close cooperation between clinicians and the laboratory is required both for diagnosis and for the detection of possible inheritance. Keywords Angelman syndrome, genetics http://herkules.oulu.fi/isbn9514270274/isbn9514270274.pdf

10. Facts About Angelman Syndrome: The Genetic Mutations That Cause Angelman Syndrom Angelman Syndrome Genetics. The genetic mutation at the heart of the condition is on a gene called UBE3A http://www.brighthub.com/science/genetics/articles/45826.aspx

11. Angelman Syndrome - Wikidoc Genetics, Pharmacogenomics, and Proteinomics of Angelman syndrome Genetics of Angelman syndrome • Pharmacogenomics of Angelman syndrome • Proteomics of Angelman syndrome http://www.wikidoc.org/index.php/Angelman_syndrome

12. Angelman Syndrome Genetics 101 FAQs FAST Frequently Asked Questions About Angelman Syndrome I ntroduction The following is a very general explanation of Angelman Syndrome written for parents like me, when my http://www.cureangelman.org/FASTFaqs/Genetics101.pdf

13. Intute - Browse Medicine By MeSH Keyword Angelman Syndrome / genetics 1 Anger 1 Angina Pectoris 7 Angina Pectoris / drug therapy 1 Angina Pectoris / therapy 1 Angina, Unstable 1 Angiogenesis Inducing Agents 2 http://www.intute.ac.uk/medicine/mesh_a.html

14. Intute - Browse Results Intute browse results GeneReviews Angelman syndrome. http//www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene part=angelman http://www.intute.ac.uk/cgi-bin/browse-keyword.pl?jacs=omni&id=253372

15. Aplasia_cutis_congenita - Encyclopedia Of Plants deletion 18q deletion syndrome Angelman syndrome. genetics unknown Acrogeria Adams–Oliver syndrome Adducted thumbs syndrome Atrophodermia vermiculata http://plantspedia.org/info/Aplasia_cutis_congenita

home about us terms and conditions sponsors ... contact us Popular Articles ashwagandha ayurvedic bamboo plants basil ... vegetables Aplasia cutis congenita Classification and external resources Aplasia cutis congenita ICD Q ILDS OMIM ... article/1110134 Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars" ) is the most common congenital cicatricial alopecia , and is a congenital focal absence of epidermis with or without evidence of other layers of the skin. It can be associated with Johanson-Blizzard syndrome Adams-Oliver syndrome trisomy 13 , and Wolf-Hirschhorn syndrome It is also seen with exposure to Methimazole in utero. See also List of cutaneous conditions References Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set . St. Louis: Mosby. ISBN Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0071380760 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0721629210 Online 'Mendelian Inheritance in Man' (OMIM) This Genodermatoses article is a stub . You can help Wikipedia by expanding it v d e ... Congenital malformations and deformations of integument Skin disease genodermatosis Congenital ichthyosis ... X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome ... Nevus flammeus nuchae Other Familial cutaneous papillomatosis Kindler syndrome cadherin EEM syndrome ... Birthmark Aplasia cutis congenita

16. Angelman Syndrome Angelman Syndrome Genetics Home Reference; Angelman Syndrome Children's Hospital, Boston; Angelman Syndrome Information Page National Institute of Neurological Disorders and Stroke http://www.noah-health.org/en/bns/disorders/other/angelman.html

17. Beckwith Wiedemann Syndrome - Reference Angelman syndrome; Genetics. KCNQ1OT1; Epigenetic; Cyclindependent kinase inhibitor 1C; Genetic disorders; Birth defect; Symptoms (11) Cryptorchidism; Diastasis recti http://health.kosmix.com/topic/Beckwith_wiedemann_syndrome/Reference

18. Genetics Of PWS Phone 800926-4797 or 941-312-0400 Your membership provides this website - Join Today! http://www.pwsausa.org/syndrome/Genetics_of_PWS.htm

Phone: 800-926-4797 or 941-312-0400 Your membership provides this website - Join Today! HOME BE INFORMED About PWS Get Publications ... CONTACT US The Genetics of Prader-Willi Syndrome: An Explanation for the Rest of Us Chromosome 15 - an explanation (Originally published in PWSA’s 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. Chromosomes and Genes: The Basics 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.

19. Genomic Imprinting - VidoEmo - Emotional Video Unity Genomic Imprinting Upload, share, download and embed your videos. Watch premium and official videos free online. Download Millions Of Videos Online. The latest music videos, short http://www.vidoemo.com/yvideo.php?i=dlZtYThYcWuRpam1Id1k&genomic-imprinting

20. Prevalence And Incidence Of Angelman Syndrome - WrongDiagnosis.com approx 1 in 12,000 or 0.01% or 22,666 people in USA Source statistic for calcuation 1 per 12,000 20,000 people are affected by Angelman syndrome, Genetics Home Reference http://www.wrongdiagnosis.com/a/angelman_syndrome/prevalence.htm

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