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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

41. The Genetics Of Prader-Willi Syndrome
    In 1996, two national genetics groups worked together to developguidelines on testing for PraderWilli and angelman syndromes.  
    http://www.pwsausa.org/syndrome/Genetics_of_PWS.htm
    
    Extractions: Genetic Tests for PWS 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. It is only in the past 20 years that researchers have discovered the genetic changes on chromosome 15 that are responsible for the syndrome. In 1981, Dr. David Ledbetter and his colleagues reported a breakthrough discovery: They found that many people with PWS had the same segment of genes missing from one of their chromosomes. They had discovered the deletion on chromosome 15 that accounts for more than half 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 that there are several genetic forms of this complex disorder, and we have genetic tests that can confirm nearly every case. Chromosomes and Genes: The Basics To understand the genetics of PWS, you first need a basic understanding of chromosomes and genes. Chromosomes are tiny structures that are present in nearly every cell of our bodies. They are the packages of genes we inherit from our parents. Genes contain all the detailed instructions our bodies need to grow, develop, and function properly—our DNA. Specific genes direct our cells to produce proteins, enzymes, and other essential substances. Each of our many genes is located on a specific chromosome. Identifying the exact locations and order of genes is a goal of the Human Genome Project, an international research effort.

42. Updated Physical Map Of The Prader-Willi Syndrome/Angelman Syndrome Region On Ch
    angelman syndrome region on chromosome 15q11q13. Susan L. Christian, Nehal K. Bhatt,Scott A. Martin, and David H. Ledbetter. Center for Medical genetics, The  
    http://www.pwsausa.org/Scnceday/12_SD_03.htm
    
    Extractions: July 16, 1997, Orlando, FL Updated physical map of the Prader-Willi syndrome/Angelman syndrome region on chromosome 15q11-q13. Susan L. Christian, Nehal K. Bhatt, Scott A. Martin, and David H. Ledbetter. Center for Medical Genetics, The University of Chicago, Chicago, IL. Prader-Willi syndrome (PWS) is an imprinted disorder resulting from loss of paternally expressed genes on chromosome 15. Currently, 6 genes arc known whose expression is lacking in patients with PWS. To better understand the consequences of the Loss of imprinted genes on Prader-Willi syndrome, all genes with maternal imprinting need to be identified. As a first step toward accomplishing this goal, we have completed a detailed physical map of chromosome 15q11-q13. Return to PWSA's 12th Annual Scientific Day Summary

43. Articles: Angelman's Syndrome & AAC
    In this case, Dr. angelman s hunch that three children can confirm the existenceof syndromes caused by which combines areas of genetics, neuropsychology and  
    http://www.augcominc.com/articles/8_3_1.html
    
    Extractions: The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman Syndrome is one such story. Dr. Harry Angelman reflects: "It was purely by chance that nearly 30 years ago, three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities; and although at first sight they seemed to be suffering from different conditions, I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because in spite of technical investigations, which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this, I hesitated to write about them in the medical journals. However, when on holiday in Italy, I happened to see an oil painting in the Castelvecchio museum in Verona called a Boy with a Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children.

44. Articles: References
    Whidden Buehler. Facts about angelman syndrome. Division of genetics,Department of Pediatrics, University of Florida, Gainesville.  
    http://www.augcominc.com/articles/8_3_6.html
    
    Extractions: Facts about Angelman Syndrome . Division of Genetics, Department of Pediatrics, University of Florida, Gainesville. Current Opinion in Neurology Archives of Disease in Childhood American Journal of Medical Genetics What is Angelman syndrome ? AS Foundation. PO Box 12437, Gainesville, FL 32604. Phone: 904-332-3303. American Journal of Medical Genetics Facts about Angelman Syndrome . Unpublished Paper. Raymond C. Philips Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida. HSC Box 100296, Gainesville, FL 32610-0296. Current Problems in Pediatrics Joseph Wagstaff. (August 1995). Personal communication. Current Opinion in Psychiatry AGOSCI News . Pp. 30-33. Armstrong, B.L. (1992). Angelman's syndrome: Augmentative/alternative communication. Communication Outlook Developmental Medicine and Child Neurology Fey, M.C. (1986). Language intervention with young children . Boston: College-Hill Press, Inc. Miller, L.W. (1995). Angelman Syndrome: A parent's guide . Available from the Angelman Syndrome Foundation, PO Box 12437, Gainesville, FL 32604.

45. PRADER-WILLI SYNDROME And ANGELMAN SYNDROME
    PRADERWILLI syndrome and angelman syndrome. Test performed by theMolecular genetics laboratory. For results, use ward computer  
    http://www.adhb.govt.nz/LabPlusHandbook/handbook/ManualPRADERWILLI_SYNDROME_and_
    
    Extractions: PRADER-WILLI SYNDROME and ANGELMAN SYNDROME Test performed by the Molecular Genetics laboratory. For results, use ward computer or phone Lablink : 5995 or (09) 307-8995 or 0800 522 758. For Prader Willi Syndrome and Angelman Syndrome testing by FISH, see Molecular Cytogenetics SPECIMENS: Blood: 3 x 4.0 mL whole blood into EDTA tubes . Invert several times to mix. Forward within 24-48 hours at ambient temperature. Paediatric Samples: Minimum of 2 mL whole blood in EDTA tubes Amniotic Fluid: Obtain specimen during 14 - 17th week of gestation. Draw 20mL amniotic fluid and send to Cytogenetics Laboratory for culture. SPECIMEN SHOULD NOT BE FROZEN . Bloody specimens are undesirable. NOTE: Referral reason plus adequate information and family history must be submitted with the specimen. Pedigree must be included where appropriate. BACKGROUND: Angelman syndrome (AS) is a non-progressive congenital disorder characterised by more significant developmental delay/mental retardation, ataxia, jerky arm movements, macrostomia, tongue thrusting, unprovoked laughter, brachycephaly, and virtual absence of speech. AS has also been associated with two different types of chromosome 15 abnormalities. About 65-80% of affected individuals have a de novo deletion of essentially the same region of chromosome 15 detected for PWS. The deletion can be demonstrated by high resolution chromosome analysis in conjunction with FISH analysis. Molecular genetic testing has shown that the AS deletion occurs only on the chromosome 15 inherited from the mother. Thus, the individuals with AS resulting from deletion or uniparental disomy are deficient for maternally derived genes from chromosomes 15. Both chromosome 15 deletions and uniparental disomy occur as

46. Human Genetics - UPD Paternal Chromosome 15
    Clin Genet 53( 3) 2235 Abstract. Stalker, HJ;Williams, CA (1998) Genetic counselingin angelman syndrome the challenges of multiple causes see comments.  
    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.

47. Department Of Human Genetics - Clinical Laboratory And Patient Services
    Clinical Genetic Testing Services. angelman syndrome Testing Formsand Documentation. Genetic mechanisms that result in AS include  
    http://genes.uchicago.edu/clinic/ASTest.html
    
    Extractions: Genetic mechanisms that result in AS include: 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 mutations will not be detected by the M-PCR assay.

48. Gene Glitch In Angelman Syndrome Identified - From The Laboratories Online Newsl
    gene believed to cause angelman syndrome was developed at Baylor in 1998 in the labof Arthur Beaudet, MD, a professor of molecular and human genetics at Baylor  
    http://www.fromthelab.net/vol02/is4/03apr_n3.htm
    
    Extractions: Photos Available Upon Request Comments, Suggestions? By Anissa Anderson Orr David Sweatt, PhD The happy disposition that is a hallmark of Angelman Syndrome masks serious problems deep inside the brain. Angelman children cannot learn normally and have particular difficulty with spoken language. Using a genetically engineered mouse developed at Baylor College of Medicine, researchers have discovered a glitch that might prevent Angelman patients from developing long-term memory. The discovery was published in the April 1 issue of the Journal of Neuroscience Angelman Syndrome Angelman Syndrome is a rare genetic condition, affecting between 1 in 15,000 to 1 in 30,000 people. Common symptoms include mental retardation, a nearly total lack of speech and unique behaviors such as inappropriate bursts of laughter and hyperactivity.

49. Angelman Syndrome - The Knowledge Database Of The Swedish National Board Of Heal
    Because the genetics of angelman syndrome may be complex, it is advisableto consult a clinical genetician in every individual case. Symptoms.  
    http://www.sos.se/smkh/2003-110-11/2003-110-11.htm
    
    Extractions: With effect from 2001, the National Board of Health and Welfare classifies its publications into various types of document. This an Overview of Knowledge . That means that the report is based on science and/or proven experience. Overviews of knowledge among other things are to provide support for knowledge-based care and treatment, method development and other improvement work, encourage and facilitate quality follow-up and/or encourage efficient utilisation of resources. The National Board of Health and Welfare is responsible for the contents and conclusions. The disease/injury/diagnosis Article number: 2003-110-11 English index Search The aphabetical list This is an excerpt from the knowledge database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders or injuries resulting in extensive handicaps and affecting no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide up-to-date information on rare diseases and about the support and services these groups of people require. 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".

50. Angelman Syndrome
    References. Geneclinics angelman syndrome. Smith’s Recognizable Patternsof Human Malformations. Clinical genetics Lecture. Disclaimer  
    http://www.genesoc.com/counseling/Outlines/angelmansyndrome.htm
    
    Extractions: Resources for Genetic Counselors site updated May 10, 2004 outlines links search Angelman Syndrome (1) 1. Etiology a. Caused by deficient expression or function of E6AP ubiquitin protein ligase 3A gene product) b. Due to loss of maternal imprinting in 15q11-q13 region (AS/PWS region) by one of several mechanisms Deletion of the region on copy of chromosome 15 inherited maternally (65-75%) Paternal uniparental disomy (UPD) - father contributes both copies (3-7%) Imprinting defects (2-6%) Mutation in the gene (5-11%) Unknown mechanisms (11-20%) c. Patients with deletions usually more severely affected d. Affects 1 in 12,000 - 20,000 in population 2. Clinical features a. Key findings (~100%) Normal prenatal and birth history Normal metabolic, hematologic, and chemical laboratory profiles Normal brain MRI or CT scan Severe developmental delay by 6-12 months without loss of skills Speech impairment Movement or balance disorder (gait ataxia, tremulous movement of limbs)

51. Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen
    genetic counselor is oncall Monday-Friday, from 830 am - 500 pm EST, to addressmedical genetic questions from Question What is angelman syndrome (AS)?  
    http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=32&temp=3

52. Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
    About Health Pediatric Health Information Medical genetics NonTraditionalInheritance Uniparental Disomy Prader-Willi syndrome, angelman syndrome.  
    http://www.chw.org/display/PPF/DocID/2932/router.asp
    
    Extractions: What is uniparental disomy? 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. What is Angelman syndrome (AS)? 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).

53. Medical Genetics
    Promotional Information. Medical genetics Home Page NonTraditional InheritanceUniparental Disomy Prader-Willi syndrome, angelman syndrome.  
    http://www.rush.edu/rumc/page-P02159.html
    
    Extractions: Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome 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 a section of chromosome #15 from the father (rather than one from the mother and one from the father). What is Prader-Willi syndrome (PWS)?

54. Prader-Willi And Happy Puppet
    be informative in assigning PWS to SNRPN gene angelman syndrome genetics. Maternally inherited deletions of 15q11-13 or (rarely  
    http://www.bmb.psu.edu/faculty/simpson/lab/07impri/as-pws.htm

55. Entrez PubMed
    ubiquitinproteosome protein degradation pathway. MeSH Terms angelmansyndrome/genetics; angelman syndrome/metabolism*; Base Sequence;  
    http://www.molecular-cancer.com/pubmed/9891052
    
    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

56. Angelman Syndrome
    angelman syndrome (AS) is characterized by dysmorphic facial features, microcephaly,severe mental retardation The genetic basis of the disorder is complex.  
    http://genetics.hillcrest.com/angelman_syndrome.htm
    
    Extractions: Angelman Syndrome: Angelman syndrome (AS) is characterized by dysmorphic facial features, microcephaly, severe mental retardation, failure to learn speech, gait ataxia, and frequent laughter. The genetic basis of the disorder is complex. The majority of patients (70%) have interstitial deletions of the maternal chromosome 15 (q11.2-q13). Approximately 7%-9% have mutations of the imprint control region, 4%-6% have point mutations in the UBE3A gene, and 3%-5% have paternal uniparental disomy (UPD). In the remaining 10%-14% of patients with AS, no molecular abnormality has been found. The American College of Medical Genetics has described two approaches to laboratory diagnosis. The first approach, to be used in cases with a high degree of suspicion of AS, is DNA methylation analysis, which will detect AS cases caused by deletion, UPD or imprint defects. If the results are negative, chromosome analysis or UBE3A gene sequencing should be performed to rule out chromosome abnormalities, or point mutations, respectively. In the second approach, chromosome analysis and FISH are carried out first to detect AS patients with deletions and non-AS patients with chromosome abnormalities. If negative, DNA methylation studies can be performed to detect AS cases with UPD and imprint control mutations. For Testing Methodology, Specimen Requirements and CPT codes, refer to

57. Entrez PubMed
    further explored using newer techniques. Publication Types Letter.MeSH Terms angelman syndrome/genetics*; Animals; Base Sequence;  
    http://genomebiology.com/pubmed/7666455
    
    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

58. Welcome To Bridges4kids.org!
    Summary of genetics of angelman syndrome. http//www.angelman.org/twopgGenetic.htm. Describesthe genetic basis for angelman syndrome.  
    http://www.bridges4kids.org/Disabilities/Angelman.html
    
    Extractions: Early On Lead Poisoning Positive Behavior Support No Child Left Behind ... Detroit Parent Network 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?

59. Références Intéressantes Sur Le Syndrome D
    molecular findings identify limits of technical screening tests for PraderWilliand angelman syndrome diagnoses. American Journal of Medical genetics, 78, 242  
    http://www.er.uqam.ca/nobel/d341460/References/ref_Angelman.htm
    
    Extractions: (Some interesting refences on Angelman Syndrome) Par Caroline Berthiaume, BS.c American Journal of Medical Genetics, 80, American Journal of Human Genetic, 63, American Journal of Medical Genetics, 66, Gilgenkrantz, S. (1997). UBE3A, un gène inattendu impliqué dans le syndrome d’Angelman. Médecine/Science, 15 American Journal of Medical Genetics, 78, American Journal of Medical Genetics, 80, The New England Journal of Medecine, 326, Sprowles, M. (1995). Angelman Syndrome: A parent’s guide survey. Mary Washington College, Masters of Arts in Liberal Studies Program. Facts about Angelman syndrome . Gainesville: Raymond C. Phillips Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida. American Journal of Medical Genetics, 56,

60. Liens En Déficience Intellectuelle
    angelman (angelman syndrome) syndrome Cat syndrome XYY (XYYsyndrome) Autres sites intéressants Génétique (genetics) Autisme (autism).  
    http://www.er.uqam.ca/nobel/d341460/liens.htm

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