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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

U.Va. Top News Daily
For Wagstaff, a pediatrician and medical geneticist with a joint appointment inbiochemistry and molecular genetics, angelman syndrome provides a special
http://www.virginia.edu/topnews/link_angelman.html

Extractions: 1999 News Releases Angelman syndrome causes severe developmental delays, seizures, speech impairment, movement or balance problems, and frequent laughter and smiling. The incidence of Angelman syndrome is estimated to be approximately 1 in 15,000 individuals. Started two years ago after the arrival at UVa of Angelman expert Joseph Wagstaff , M.D., Ph.D., the workshop has provided families with a link to knowledgeable medical professionals and to other parents who share the same challenges of providing loving care, medical support and educational training for their children with the syndrome. For Wagstaff, a pediatrician and medical geneticist with a joint appointment in biochemistry and molecular genetics, Angelman syndrome provides a special research opportunity to learn about an unusual genetic phenomenon called imprinting.
Inside UVA
genetics. The deficiencies mirror images of each other cause PraderWillisyndrome, the most common genetic cause of obesity, and angelman syndrome,
http://www.virginia.edu/insideuva/2001/32/switch.html

Extractions: U.Va. initiative snags prize Secret John F. Kennedy tapes published by Miller Center Genetic switch causes syndromes Law library acquires major research collections U.Va.'s pristine research area draws scientists Museum plays educational, cultural role Off the Shelf recently published books by U.Va. faculty and staff ... Tae kwon-do can be good for business Genetic switch causes syndromes By Catherine Wolz R Health System are getting closer to finding out what causes two disabling childhood diseases, by identifying a naturally occurring on-off switching process that may control activation of genes that are missing pieces, according to results published online this month in the American Journal of Human Genetics. For some genes, only the paternal copy is active; if this copy is missing, Prader-Willi Syndrome results. For other genes, only the maternal copy is active, and loss of this copy causes Angelman Syndrome.
Camilynn I. Brannan, Ph.D., Faculty, Molecular Genetics And Microbiology, Univer
Connie Philebaum, Program Assistant Department of Molecular genetics Microbiology Mechanismof Imprinting in PraderWilli syndrome/ angelman syndrome Region.
http://www.mgm.ufl.edu/faculty/cbrannan.htm

Extractions: Associate Professor Postdoctoral Fellow, NCI, Frederick Cancer Research Center Ph.D., Princeton University B.S., Harvey Mudd College Awards and Professional Services Basil O'Connor Starter Scholar Research Award (declined) Neurofibromatosis Foundation Fellowship NIH Cancer Training Grant Baxter-Travenol Fellowship Harvey Mudd College Academic Scholarship Teaching Responsibilities BMS 5003 Medical Aspects of Genetics GMS 6001 IDP Fundamentals GMS 6905 Research in Medical Sciences GMS 6011 Mouse Genetics GMS 7191 Research Conference GMS 7979 Advanced Research GMS 7980 Doctoral Research We are saddened to report that Cami Brannan passed away October 15, 2002. In memory of our dear friend and colleague, the University of Florida has established the 'Camilynn Brannan Memorial Fund' to be used for a graduate student fellowship in Cami's honor. Donations, made out to the "University of Florida Foundation", may be sent to:
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.
Articles: Angelman's Syndrome & AAC
and English doctors have placed the syndrome on a In this case, Dr. angelman's hunchthat three children 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.
ACCESS - Autistic Continuum Connections, Education, And Support
Amoung Us Collection of angelman syndrome resources, medical and genetics information,personal stories, articles, and daily tips on life with an 'Angel'.
http://access.autistics.org/information/genetic/angelman.html
Diagnostic Criteria
syndrome Foundation (JHMK, EMW), angelman syndrome Foundation (JEH), Gainesville,Florida; Lee On Solent, Hants (HA), Department of Medical genetics, St.
http://www.angelman.org/diagnostic_criteria.htm

Extractions: Received for publication October 31, 1994. Charles A. Williams, Harry Angelman, Jill Clayton-Smith, Daniel J. Driscoll, Jill E. Hendrickson, Joan H.M. Knoll, R. Ellen Magenis, Albert Schinzel, Joseph Wagstaff, Elaine M. Whidden, and Roberto T. Zori Division of Genetics, Department of Pediatrics, University of Florida College of Medicine (C.A.W., D.J.D., E.M.W., R.T.Z.), Research Advisory Committee, Angelman Syndrome Foundation (J.H.M.K., E.M.W.), Angelman Syndrome Foundation (J.E.H.), Gainesville, Florida; Lee On Solent, Hants (H.A.), Department of Medical Genetics, St. Mary's Hospital, Manchester (J.C.-S.), Great Britain; Division of Genetics, Children's Hospital, Boston, Massachusetts (J.H.M.K., J.W.), Oregon Health Sciences Center, Portland, Oregon (R.E.M.); Institute of Medical Genetics, University of Zurich, Switzerland (A.S.) KEY WORDS: Angelman syndrome, diagnosis, genetic evaluation The Scientific and Research Advisory Committee of the Angelman Syndrome Foundation recently solicited input from scientists involved in the study of Angelman syndrome to establish consensus about the clinical profile and diagnostic criteria of Angelman syndrome. Tables I, II, and III are intended to assist in the evaluation and diagnosis of Angelman syndrome especially for those unfamiliar with this clinical disorder. These criteria are applicable for the three major types of AS: molecular deletions involving the critical region (deletion positive), uniparental disomy (UPD), and non-deletion/non-UPD [Chan et al., 1993].
Human Genetics - Mendelian Inheritance 7
HUMAN genetics. for 1st YEAR STUDENTS. When this deletion is on the maternalchromosome (the mother's genes are missing) angelman syndrome results.
http://www.uic.edu/classes/bms/bms655/lesson8.html

Extractions: HUMAN GENETICS for 1st YEAR STUDENTS n some X-linked recessive diseases, such as Duchenne muscular dystrophy, expression of the disease phenotype is limited exclusively to males. In some X-linked dominant traits, such as incontinentia pigmenti or orofaciodigital syndrome (OFD 1), expression is limited to females, males do not survive to term. However, the expression of a disease in only one gender does not necessarily imply that the disease is X-linked. There are autosomal diseases that are limited to expression in only one sex. Precocious puberty and beard growth are factors expressed only in males. The hereditary form of prolapsed uterus is expressed only in females. These are called sex limited traits. The DNA of mitochondria contains about ten genes involved in oxidative phosphorylation, as well as a few other genes. This DNA is capable of mutation, so it is not surprising that a few human diseases have been found to be associated with mitochondrial inheritance. Leber optic atrophy is a classic example of a disease of mitochondrial DNA. The ovum, originating in the female, has about 100,000 copies of mitochondrial DNA; the sperm, originating in the male, has fewer than 100 copies, and these are probably lost at fertilization. Virtually all of ones mitochondria come from his, or her, mother. Affected fathers produce no affected offspring, while the offspring of affected mothers are all affected. Figure 3 below shows the typical mitochondrial inheritance pattern.
Human Genetics - Chromosomal Inheritance 2
HUMAN genetics. for 1st YEAR STUDENTS. Included in the discussion of Mendelian traitswas a section on imprinting in PraderWilli syndrome and angelman syndrome.
http://www.uic.edu/classes/bms/bms655/lesson10.html

Extractions: HUMAN GENETICS for 1st YEAR STUDENTS n humans the normal female has two X chromosomes, while the normal male has only one X chromosome. If a gene is on the X chromosome, isn't it logical that there would be twice the gene product in females than there is in males? This was a question that remained unanswered for many years. From biochemical measurements there seemed to be the roughly the same amount of gene product in both males and females. The phenomenon was called "dosage compensation." Somehow the gene knew to compensate for the sex of the individual, either make half as much product if it found itself in a female or make twice as much product if it was in a male. Dosage compensation was explained by the discoveries of Mary Lyon. The inactive X usually lies along the edge of the interphase nucleus in a highly condensed state. It is always the last to replicate. In 1948, before the discoveries of Lyon, Barr and Bertram found that in the interphase nucleus of female cat neurons there were a significant number of cells that had one "darkly staining body" lying along the edge of the nucleus, but they never found a "darkly staining body" in the neurons of male cats. Similar "darkly staining bodies" are found in buccal epithelial cells of human females, although they can usually be found in only 30% to 40% of the cells. Normal males never express these "Barr bodies." In all cases, the number of Barr bodies is one less than the number of X chromosomes in an individual. One Barr body means the individual has two X chromosomes, two Barr bodies means the individual has three X chromosomes, etc. We now know that the "darkly staining" Barr body is the condensed, inactive X chromosome.
Angelman's Syndrome (www.whonamedit.com)
Sugimoto, Y. Fukushima, A. Yamaguchi, et al DNA deletion and its parental originin angelman syndrome patients. American Journal of Medical genetics, New York
http://www.whonamedit.com/synd.cfm/225.html

Extractions: 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. Harry Angelman described three cases in 1965 and called them puppet children because of their peculiar gait. He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published 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 and within the last years many new reports have appeared. Two years after Angelman's description, Bower and Jeavons reported two affected children and modified the title to "Happy puppet syndrome". This term came into general use, appearing in the French language literature as marionette joyeuse or syndrome du pantin hilare. In 1982 Williams and Jaime L. Frias suggested that the eponym "Angelman" should replace the descriptive title of the condition, in order to avoid any possible offence to the families of affected persons.
Selected Clinical Links Of Medical Genetics Of The University Of Geneva Medical
Translate this page College of Medical genetics. Patients. Quelques sites et associations de patientsanglophones. Association Charcot-Marie-Tooth. angelman syndrome Foundation.
http://medgen.unige.ch/links/clinical.html

Extractions: Liens locaux FMH International Federation of Human Genetics Societies The European Society of Human Genetics The British Society of Human Genetics ... The American Academy of Pediatrics Bioethics section of the Council of Europe Directorate of Legal Affairs Bioethics International Calendar European Database on Bioethics, supported by the European Commission and coordinated by France, Germany, Netherlands and Sweden Genetics and Ethics ... Policy Statements of the American College of Medical Genetics Quelques sites et associations de patients anglophones Association Charcot-Marie-Tooth Angelman Syndrome Foundation Ataxia-Telangiectasia Children's project Cri-du-Chat Syndrome Support Group ... Williams syndrome Association Quelques sites et associations de patients francophones Association Belge de Lutte contre la Mucoviscidose Association Charcot-Marie-Tooth-France Association contre les Maladies Mitochondriales Association du Cri du Chat Suisse ... Trisomie 21 Liens cliniques pour les professionnels BioMedNet CEPH Cystic Fibrosis Mutation Data Base Gene Clinics ... DGM Contacts
Newsletter Archive | Genetics 101 For Disabilities Professionals
About angelman syndrome, from the angelman syndrome Foundation cri du chat) Overviewof 5p syndrome from the mentioned above, check out genetics and Mental
http://www.pbrookes.com/email/archive/november01/November01D3.htm

Extractions: Next month, we're going to take a look at that question with a feature on fragile x syndrome from Genetics and Mental Retardation Syndromes, by Elisabeth M. Dykens, Robert M. Hodapp, and Brenda M. Finucane. This month, we're linking you to sites around the Internet. These sites make for a genetics primer and a good bunch of favorites for people who work in the disabilities field.
Advanced Search
Basic principles of human and medical genetics Genes and Imprinting (PraderWillisyndrome, angelman's syndrome); Uniparental disomy (Prader-Willi syndrome
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. Knowledge Basic principles of human and medical genetics Genes and chromosomes Genogram/pedigree Components Preparation Interpretation Basic Mendelian inheritance patterns (hair/eye color, blood type)
Tokyo Medical University Genetics Prader-Willi Syndrome References
? 1. American Society of Human genetics/American College testing for PraderWilliand angelman syndromes RL; Carrel, RE The Prader-Willi syndrome a study
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.
Alfigen/The Genetics Institute | Continuing Medical Education Program | Update S
As the gene for angelman syndrome is normally active in brain only on the maternallyinherited chromosome, lack of maternal contribution of this gene as a
http://www.alfigen.com/education_1_1_1.html

Extractions: Genomic imprinting refers to the process of differential modification and expression of parental alleles. As a result, the same gene may function differently depending on whether it is maternally or paternally derived. This concept is contrary to that of the traditional Mendelian inheritance in which genetic information contributed by either parent is assumed to be equivalent. The best-studied examples of genomic imprinting in human disease are the Prader-Willi and Angelman syndromes. These are clinically distinct disorders; both map to the same chromosome 15q11-q13 region but they involve different genes. As the gene for Angelman syndrome is normally active in brain only on the maternally inherited chromosome, lack of maternal contribution of this gene as a result of microdeletion, mutation, or paternal uniparental disomy for chromosome 15 (see below) will cause Angelman syndrome. Conversely, the candidate gene for Prader-Willi syndrome is normally active only on the paternally inherited chromosome. Lack of paternal contribution of the gene due to either microdeletion or maternal uniparental disomy for chromosome 15 will thus cause Prader-Willi syndrome. Molecular and molecular cytogenetic diagnoses for these disorders are available. The term uniparental disomy (UPD) describes a phenomenon in which both homologues of a chromosome pair are derived from a single parent. This can occur as a result of gamete complementation (fertilization of a gamete disomic for a chromosome with a gamete nullisomic for the same chromosome) or trisomy rescue (in a trisomic conceptus, postzygotic loss of one of the trisomic chromosomes with the remaining two chromosomes contributed by the same parent), among other possible mechanisms. When UPD is for a chromosome that contains genes subject to imprinting effect, an abnormal phenotype can be expected. To date, six of the approximately thirty different types of UPD reported in humans have been shown to cause phenotypic consequences.
Alfigen/The Genetics Institute | Laboratory Services | Cytogenetics (Chromosome
Available FISH studies at Alfigen/The genetics Institute include the followingMicrodeletion syndromes angelman syndrome (15q11.2) DiGeorge syndrome (22q11.2
http://www.alfigen.com/laboratory_3_6.html

Extractions: Fluorescence in situ hybridization (FISH) is a powerful tool for rapid detection of certain chromosome abnormalities which are otherwise undetectable or difficult to characterize by conventional cytogenetic methods. It represents a relatively new type of genetic testing called molecular cytogenetics, combining the ability to identify a specific gene or gene region (molecular) with direct visualization of the cells and/or chromosomes under the microscope (cytogenetics). At Alfigen/The Genetics Institute, FISH is utilized as a valuable adjunct to traditional cytogenetics. Marker chromosomes and other chromosome aberrations that are difficult to interpret by conventional cytogenetic techniques can in many cases be identified by the use of FISH. Chromosomes can be "painted" by FISH probe cocktails. This technique is of particular significance when a complex or subtle chromosome translocation or other rearrangement is present. Telomere probes can be used to detect subtle translocations or deletions involving the ends of chromosomes.
Prader-Willi And Angelman Syndromes
White LM, Knoll JHM (1995) angelman syndrome routine molecular cytogenetic analysisof Dr. Suzanne B. Cassidy, Center for Human genetics, Case Western Reserve
http://www.faseb.org/genetics/acmg/pol-22.htm

Extractions: Am. J. Hum. Genet. 58:1085-1088, 1996 Angelman syndrome (AS) is a clinically distinct disorder from PWS that can also be difficult to diagnose, particularly in the first few years of life. Approximately 70% of cases of AS have a deletion of 15q11-q13 in the maternally contributed chromosome 15. In most cases, this is the same deletion as that identified in PWS. About 3%-5% of cases of AS are due to paternal UPD. An abnormality in the imprinting process has been described in about one-third of the remaining 25% of patients; others in that gro up are hypothesized to have AS on the basis of a single gene mutation whose genetic locus is unknown. This category includes some familial cases that are mapped to 15q11-q13. None of the recurrences of PWS or AS, to date, have involved the typical deletion or UPD, but rather have involved translocations, imprinting mutations, or AS patients with no detectable molecular abnormality. The following are the recommendations of a Joint American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee working group, which was convened to identify scientifically and clinically valid approaches to the diagnosis of PWS and AS and determination of their genetic basis.
GGRC - Medical Care Information
Penner, Kandace A, et al. 1993. Communication, Cognition, and Social Integrationin the angelman syndrome. American Journal of Medical genetics 46 3439.
http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3154
Rainbow Babies And Children's Hospital
Clinics; Cancer genetics Clinics; Prenatal genetics services. The Center CraniofacialDisorders Team; Marfan syndrome Clinic; angelman syndrome Clinic; Bone
http://www.uhrainbow.com/services/specialties/genetics.asp

Extractions: Overview: Clinical activities of the Center for Human Genetics , a unique collaboration between clinicians of University Hospitals of Cleveland and researchers of Case Western Reserve University, focus on clinical and laboratory diagnosis, management, and genetic counseling for the full range of pediatric, prenatal, and adult genetic disorders. These activities are conducted as inpatient consultations and outpatient general genetics clinics, prenatal couseling clinics, and specialty clinics for metabolic disorders, Prader-Willi syndrome, Marfan syndrome, bone disorders, craniofacial disorders, and familial cancer. The Center's activities are coordinated with several other pediatric, prenatal, medical, and surgical specialists. At Rainbow, the Centers services particularly focus on: The Center for Human Genetics provides a state-of-the-art diagnosis of: The Center also participates in interdisciplinary and collaborative specialty clinics, including:
Photographs
photographs of the various diseases described in Medical genetics. albinism alpha1-antitrypsindeficiency Alzheimer disease angelman syndrome aniridia ataxia
http://medgen.genetics.utah.edu/photographs.htm

Extractions: This page contains links to pages with supplemental photographs of the various diseases described in Medical Genetics. By clicking on a link you will go to a page that has all of the photographs of that particular disease. Click on the photographs to see a larger version. The following is an alphabetical list of various genetic diseases: achondroplasia

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