61. ARUP Angelman Syndrome angelman syndrome Pathology Clinical Pathology ARUP Institute for Clinical Experimental Pathology™ Molecular genetics Pediatric Testing http://www.aruplab.com/guides/ug/tests/0051113.jsp

62. Newsletter Archive | Genetics 101 For Disabilities Professionals How can learning about the genetics underlying certain syndromes and disorders Facts About angelman syndrome, from the angelman syndrome Foundation. http://www.brookespublishing.com/email/archive/november01/November01D3.htm

Genetics 101 for Disabilities Professionals From the November 2001 Disabilities newsletter. How can learning about the genetics underlying certain syndromes and disorders help you design more effective behavioral interventions? 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. Great links on genetics basics: Glossary of Genetic Terms A comprehensive glossary from the Genetic Alliance. Genomics 101: The Basics An introduction to genetics that is a special feature on the Human Genome Project's web site. An Introduction to Genetics and Mental Retardation A downloadable PDF document from The Arc. Links on specific syndromes: Down Syndrome Information on the cause of Down syndrome in a FAQ format from the National Down Syndrome Society.

63. Carlos A. Bacino, M.D. angelman, syndrome, anthropometric, studies, craniofacial, disorders, skeletal, Associate Professor, Department of Molecular and Human genetics http://imgen.bcm.tmc.edu/molgen/facultyaz/bacino.html

Carlos A. Bacino, M.D., F.A.C.M.G. Associate Professor , Department of Molecular and Human Genetics Director Kleberg Genetics Clinic Medical Director Kleberg Cytogenetics Laboratory M.D., University of Buenos Aires, Argentina, 1981 Intern and Resident in Pediatrics, Beth Israel Medical Center, New York, 1991 Fellow in Clinical Genetics and Cytogenetics, Cedars-Sinai Medical Center, 1994 Open page in new window Return to Search page Last modified: July 2005 Research Interests Selected Publications Clinical Information Contact Information RESEARCH INTERESTS: I am primarily devoted to clinical activities in the Department of Molecular and Human Genetics. In the area of clinical genetics, I am involved in the diagnosis and management of patients with birth defects and a variety of genetic disorders. I participate in subspecialty clinics such as the Skeletal Dysplasia, Otogenetics Clinic Craniofacial Clinic. I am directly involved in the supervision and training of medical students, residents, and fellows. As the Medical Director of the Kleberg Cytogenetics Laboratory, I have a particular interest in structural chromosomes abnormalities and contiguous gene syndromes, as well as the mechanism of origin of these chromosome anomalies. With regards to research activities, I have two major areas of interest:

64. Human Genetics - Mendelian Inheritance 7 HUMAN genetics. for 1st YEAR STUDENTS When both chromosomes 15 are derivedfrom the father, angelman syndrome results. For normal development an http://www.uic.edu/classes/bms/bms655/lesson8.html

HUMAN GENETICS for 1st YEAR STUDENTS MENDELIAN INHERITANCE SEX LIMITED INHERITANCE 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. MITOCHONDRIAL INHERITANCE 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.

65. Human Genetics - Chromosomal Inheritance 2 The two syndromes are not at the same genetic locus, but are controlled by genes angelman syndrome can also result from mutations within the gene (or http://www.uic.edu/classes/bms/bms655/lesson10.html

HUMAN GENETICS for 1st YEAR STUDENTS CHROMOSOMAL INHERITANCE SEX CHROMOSOME ABNORMALITIES 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. LYON HYPOTHESIS BARR BODIES 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.

66. Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen The Department of Human genetics does not currently accept or host advertisements on Additional information on AS can be found at the angelman syndrome http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=32&temp=3

67. Medical Genetics: What Is Uniparental Disomy? - New Hanover Medical genetics What is uniparental disomy? People with angelman syndrome (AS)have mental retardation, severe speech problems, stiff arm movements, http://www.nhhn.org/13923.cfm

Home Health Information Health Topics A to Z Health Topics A to Z Medical Genetics 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 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)? Prader-Willi syndrome (PWS), on the other hand, results when a baby inherits both copies of a section of chromosome #15 from the mother. Babies born with PWS have poor muscle tone and a weak cry. They initially are slow feeders and appear undernourished. The feeding problems improve after infancy and often between 2 to 4 years of age the child becomes obsessed with food and is unable to control their appetite. The overeating often results in rapid weight gain and obesity. Individuals with PWS are mentally retarded and less-than-average adult height.

68. Research Describes the clinical genetics activities of Dr. Charles A. Williams, MD,University of Including angelman syndrome Hayward Foundation Teaching Site http://www.peds.ufl.edu/genetics/caw/Research.htm

Research Angelman Syndrome (AS) I am studying genotype and phenotype correlations in AS. This research draws from information contained in the UF AS clinical repository that I and my colleagues have been developing since 1982. Analysis of genetic test-negative cases is ongoing to identify AS mimicking conditions. I am also studying unique AS cases that have rare associated malformations or uncommon clinical conditions. My interest in this aspect is to determine whether these are coincidental occurrences or are part of a broader spectrum of AS. Gastroschisis and Small Intestinal Atresias Through collaboration with the Florida Birth Defects Registry, I am studying all cases of gastroschisis and cases of small intestinal atresias (SIAs) occurring in newborns born in Florida in years 2000 and 2001. This study focuses on maternal age effect and on the categorization of associated malformations. Autism Spectrum Disorders (ASD) I am evaluating a series of ASD or ASD-like individuals who have microduplication of chromosome region 15q11.2. The clinical manifestations of this duplication range from learning disability to classical infantile autism. I am also involved in a descriptive study that identifies the empirical treatments given to children with ASD. Single Case Collaborations Research on these genetic conditions stems from ascertainment, in our genetics clinics, of certain conditions that are of sufficient exceptionality to warrant further study, usually in collaboration with the research effort of other institutions.

69. Publications Genetic Counseling in angelman syndrome. Proceedings of the International Congresson angelman syndrome. Editors Smith A , ClaytonSmith J., in press 2000 http://www.peds.ufl.edu/genetics/caw/About me publications.htm

Recent Publications Howell VM, Zori RT, Stalker HJ, Williams C, Jesse N, Nelson AE, Robinson BG and Marsh DJ A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. J Pediatr 145(4), 567, 2004. Williams CA . Neurological aspects of the Angelman syndrome. Brain Dev 27(2), 88-94, 2005 Williams CA, Wallace MR, Drury KC, Kipersztok S, Edwards RK, Williams RS, Haller MJ, Schatz DA, Silverstein JH, Gray BA, Zori RT: Blood lymphocyte chimerism associated with in vitro fertilization and monochorionic dizygous twinning. Hum Reprod 19(12), 2816-2821, 2005. Williams CA, Hauser KW, Correia JA, Frias JL. Ascertainment of gastroschisis by using the ICD-9 CM surgical procedure code. Birth Defects Res A Clin Mol Teratol, in press 2005. Williams CA, Mardon RE, Grove D, Wharton P, Hauser KW, Frias JL: Treatment of oral facial clefts by state-affiliated craniofacial center and cleft palate clinics. Birth Defects Res Part A Clin Mol Teratol. 2003 Sep;67(9):643-6. Keller K, Williams C, Wharton P, Paulk M, Bent-Williams A, Gray B, Ward A, Stalker H, Wallace M, Carter R, Zori R. Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders. Am J Med genet; 117A(2): 105-11, 2003

70. Genetics And The Child With Developmental Delay Over the past few years, discoveries in the field of genetics have been PraderWilli syndrome and angelman syndrome share a common deletion but manifest http://www.dcmsonline.org/jax-medicine/2000journals/march2000/genetics.htm

Genetics And The Child With Developmental Delay Pamela Arn, M.D. Pamela Arn, M.D. is a Clinical Geneticist with Nemours Children's Clinic, Jacksonville. Over the past few years, discoveries in the field of genetics have been explosive. New cytogenetic and molecular techniques have significantly changed the array of tests available for the diagnosis of genetic disorders. In addition, new modes of inheritance have been discovered, further complicating the clinical evaluation and counseling of patients who may have a genetic disorder. In this article, some of the genetic causes of developmental delay and mental retardation will be reviewed. As in any evaluation, the history, family history and physical exam are essential pieces of information prior to diagnostic testing. Family history should focus on other individuals with developmental or learning problems, mental retardation, stillbirths, birth defects, or deaths occurring during childhood. Teratogens In cases of developmental delay, a thorough prenatal history should be obtained. Information regarding smoking, drug and alcohol exposure should be obtained. Known teratogens that can affect fetal neurological development include radiation, infections, maternal diseases such as diabetes and phenylketonuria, alcohol and some medications.

71. Angelman Syndrome - Patient UK Jiang Y, LevLehman E, Bressler J, et al; genetics of angelman syndrome.;Am J Hum genetics of angelman syndrome; Guerrini R, De Lorey TM, Bonanni P, http://www.patient.co.uk/showdoc/40001720/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Angelman Syndrome Congenital chromosome disorder first described by Harry Angelman, an English physician from Cheshire, (1915-1996) in 1965. A few cases were also described in the USA in the 80’s, but the rarity of the condition provoked queries as to its existence for several years. Bower and Jeavons coined the term ‘ happy puppet’, although this can be seen as derogatory by family. Aetiology There are several mechanisms of genetic disruption in Angelman syndrome. FISH (Fluorescence In Situ Hybridization) has shown a small deleted area on chromosome 15 in 70% of cases, inherited from the mother, - consisting of 4 million base pairs, enough for several genes . Similar genetic changes on the chromosome 15 of paternal origin produce Prader-Willi syndrome. Whether the deletion is active depends on the origin of the chromosome. This is known as genetic imprinting. A gene located in the Angelman syndrome region is called UBE3A. This is found to have mutated in 50% of cases. It codes for a protein called ubiquitin protein ligase. This is believed to be the causative gene.

72. Genome Research Tracks Down Bad Genes 06/98 People affected by angelman syndrome suffer from severe mental Links to otherHuman Genome Project websites and related genetics topics can be found at http://www.pnl.gov/er_news/06_98/art2.htm

This issue... ER Briefly Inside ER A Proton Shaped Like Elvis? Bad Genes Working Science People E-mail Reminder This issue... ER Briefly Inside ER A Proton Shaped Like Elvis? Bad Genes Working Science People E-mail Reminder Genome Research Tracks Down Bad Genes by Kathy Blanchard Gene discoveries this year offer hope for understanding the fundamental causes of two genetic conditions that, in humans, stem from chromosomes 19 and 15: congenital nephrotic syndrome and Angelman syndrome. These discoveries were made possible by advances in the U.S. Human Genome Project, launched a decade ago by ER's Office of Biological and Environmental Research and the National Institutes of Health. The goal of the Human Genome Project is to identify the estimated 70,000 to 100,000 human genes and construct maps of entire chromosomes. Genome research will ultimately reveal the complete ordering of the components that make up DNA, the heredity blueprint. The Human Genome Center at Lawrence Livermore National Laboratory has mapped most of chromosome 19 and has sequenced, or ordered, the base pairs for about 6.2 million of the chromosome's 65 million bases. (Base pairs are combinations of proteins and enzymes that form the building blocks of DNA.) Using the genetic map of chromosome 19, scientists at Livermore and in Sweden (Karolinska Institute, Stockholm) and Finland (University of Oulu, Oulu) collaborated to locate the gene that causes congenital nephrotic syndrome, a deadly kidney disease. Congenital nephrotic syndrome, which is most prevalent in Finland, causes massive amounts of protein to be excreted from the body and usually leads to death by age 2. Scientists at the Human Genome Center used their detailed chromosome 19 map to locate many of the genetic markers used by the European researchers to analyze families with the disease. Eventually, through additional family studies and identification of more genetic markers, the search for the disease gene was narrowed to a region of about one million base pairs and finally to 150,000 base pairs. The European researchers then found and began analyzing 11 possible genes that could be responsible for the disease.

73. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome People with angelman syndrome (AS) have mental retardation, severe speech problems, Schneider Children s Hospital Division of Human genetics http://www.schneiderchildrenshospital.org/peds_html_fixed/peds/genetics/uniparen

Medical Genetics Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome 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). What is Prader-Willi syndrome (PWS)? Prader-Willi syndrome (PWS), on the other hand, results when a baby inherits both copies of chromosome #15 from the mother. Babies born with PWS have poor muscle tone and a weak cry. They initially are slow feeders and appear undernourished. The feeding problems improve after infancy and often between 2 to 4 years of age the child becomes obsessed with food and is unable to control their appetite. The overeating often results in rapid weight gain and obesity. Individuals with PWS are mentally retarded and less-than-average adult height.

74. ANGELMAN SYNDROME: Contact A Family - For Families With Disabled Children: Infor angelman syndrome may arise from a variety of genetic abnormalities, all of whichinvolve the same part of chromosome 15. The majority of children have a http://www.cafamily.org.uk/Direct/a54.html

printer friendly ANGELMAN SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Inheritance patterns Angelman syndrome may arise from a variety of genetic abnormalities, all of which involve the same part of chromosome 15. The majority of children have a small deletion of the 15q11-13 region. Diagnostic testing for Angelman syndrome is complex. In the majority of families only one child is affected by Angelman syndrome but in some cases brothers, sisters and extended family members may be affected. It is recommended that parents of an affected child should approach their local clinical genetics centre for genetic counselling and testing on an individual basis. Prenatal diagnosis Prenatal tests are available in those families where a definite genetic abnormality has been identified. Medical text last updated August 2002 by Jill Clayton-Smith, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK. Psychological and behavioural characteristics All individuals with Angelman syndrome have severe or profound learning disabilities. Furthermore, they have marked difficulties in their speech and language development. Early prelinguistic babbling and vocal play is often absent. Children typically acquire no more than a few words, and approximately one-third do not talk at all. Their understanding of language may be meaningfully better than their speech, and most use some nonverbal means of communication, including gestures, signs and picture boards.

75. Angelman Syndrome angelman syndrome is a neurological disorder caused by a missing section of the such as the angelman syndrome Association Australia; Genetic counselling http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Angelman_syndrome

76. ACCESS - Autistic Continuum Connections, Education, And Support Site angelman syndrome is a genetic disorder which causes severe developmental delay,speech impairment, movement or balance disorder, and unusual behaviour http://access.autistics.org/information/genetic/angelman.html

Angelman Syndrome Angelman Syndrome is a genetic disorder which causes severe developmental delay, speech impairment, movement or balance disorder, and unusual behaviour (frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hyperactivity; short attention span). A number of other physical, neurological, and behavioural characteristics are frequently seen. Angelman Syndrome shares some characteristics with autism and people with the syndrome may also be diagnosed autistic. Articles Angelman Syndrome (at the Center for the Study of Autism website) by Stephen M. Edelson, Ph.D. Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions Angelman Syndrome: A Survey of 194 AS Families overview of AS along with information of interest to parents, teachers and professionals concerning the syndrome. Molecular Analysis of Angelman Syndrome.

77. Syndrome D'Angelman - Syndrome De La Marionnette Joyeuse HONsélect http://www.hon.ch/HONselect/RareDiseases/FR/C10.228.662.075.html

InitBulle("navy","#F8F8F8","#000066",1); sites HONcode sites Web HONsélect News ... Images Chercher HONsélect Anglais Français Allemand Espagnol Portugais le mot la partie du mot dans les termes MeSH Information pour "Syndrome d'Angelman": Hiérarchie médicale et definition Articles médicaux Ressources du Web Images médicales Nouvelles médicales Conférences médicales Hiérarchie Anglais Français Allemand Espagnol Portugais Syndrome d'Angelman Définition: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION , and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms ( SPASMS, INFANTILE ); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA MUSCLE HYPOTONIA ; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35) Synonyme(s): Syndrome de la marionnette joyeuse / Syndrome du pantin hilare / Voir également: Retard mental Voir connexe: Spasmes infantiles Ataxie Hypotonie musculaire (NLM)® de l'INSERM (version française) Parcourir Chercher HONsélect Ressources du Web pour "Syndrome d'Angelman" Anglais Français Allemand Espagnol = Site with HON description - = Site with a robot description info: entrez dans le site: (cliquez ci-dessous) domaine du site: '+' Ils sont aux anges! - Accueil

78. GeneReviews: Angelman Syndrome Your browser does not support HTML frames so you must view angelman syndrome ina slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/angelman

Your browser does not support HTML frames so you must view Angelman Syndrome in a slightly less readable form. Please follow this link to do so.

79. Children With Angelman Syndrome Studying angelman syndrome offers a window into understanding genetic imprinting the process that determines which of the parental genes will be activated http://www.uchc.edu/ocomm/features/stories/stories04/feature_angelman.html

Quick Links Communications Home In the News Media Relations Clinical Marketing ... Logos and Graphic Standards UConn Health Center in the News As published in the Hartford Courant, August 31, 2004. No Laughing Matter By William Hathaway Children with Angelman syndrome used to be called "happy puppets" because they tend to laugh with ease, flap their arms like marionettes and never talk. Nearly 40 years after the syndrome was first described to skeptical doctors, scientists know what causes the rare and devastating developmental disorder. And by studying it, researchers have stumbled on new insights into a number of similar genetic diseases, as well as autism and epilepsy. However, as with investigations of many rare disorders, understanding Angelman won't necessarily improve the lives of people who suffer from it. By the time Nicole Clavette of Tolland was a year old, her mother, Donna Clavette, knew something was very wrong. Nicole almost never slept, her motor control was poor and she sometimes burst out laughing in the middle of the night. Doctors told first-time parents Donna and Mark to relax, that Nicole just might be developmentally delayed. But by the time she was 2, her doctors were concerned, too. Her movements were jerky, and she had seizures, which led one doctor to suggest Nicole had cerebral palsy. But her puppet-like mannerisms and peculiar laughter led Donna Clavette to suspect something else.

80. Références Intéressantes Sur Le Syndrome D and angelman syndrome Implications for imprintswitch models, genetic counseling, Phenotypic differences in angelman syndrome patients Imprinting http://www.er.uqam.ca/nobel/d341460/References/ref_Angelman.htm

Références intéressantes sur le syndrome d'Angelman (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, Retour à la page portant sur les syndromes génétiques (Back to genetic syndrome's page)

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