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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

61. Library Pages For X, Y, Rings, Syndromes, Misc.
    47 XYY syndrome. Abstracts from the Japan J. Hum genetics. angelman syndrome. DiGeorgesyndrome. Fragile X. Genomic Hybridization. Intrachromosomal triplications.  
    http://www.chromodisorder.org/sytrix/card_list.php3?dbid=82&id=209

62. Library Pages For X, Y, Rings, Syndromes, Misc.
    in 27 Patients with angelman syndrome resulting from DNA deletion, J. Medical genetics1996 angelman syndrome in Adulthood, Am Journal of Medical genetics 1996  
    http://www.chromodisorder.org/sytrix/card_list.php3?dbid=82&maxlist=10

63. James Resnick, Ph.D., Faculty, Molecular Genetics And Microbiology, University O
    united with Cami Brannan’s lab using mouse genetics to investigate mechanismsunderlying genetic imprinting in the PraderWilli / angelman syndrome region.  
    http://www.mgm.ufl.edu/faculty/jresnick.htm
    
    Extractions: Community of Science Research Interests: Primordial Germ Cell Development in the Mouse As the embryonic progenitors of mature gametes, primordial germ cells (PGCs) play critical roles in both reproduction and embryogenesis. During development, germ cells first appear in the extraembryonic tissues and subsequently migrate to the developing fetal gonad. Shortly after arrival in the gonad, the PGCs end a period of rapid division and differentiate along sex specific pathways. XY germ cells enter a mitotic arrest, while XX germ cells enter meiotic prophase. Recent evidence suggests that primordial germ cells are also responsible for the erasure of epigenetic marks in the germline, and that erasure coincides with gonad colonization. We are interested in understanding the mechanisms which regulate these diverse programs in early gonadal germ cells.

64. Newsletter Archive | Genetics 101 For Disabilities Professionals
    accessible article called The genetics of Prader Velocardiofacial syndrome A goodbasic overview of angelman syndrome Facts About angelman syndrome, from the  
    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.

65. Canadian Angelman Syndrome Society - August Conference 2000
    1040 am, Dr. Patrick MacLeod (Victoria General Hospital) Medical genetics. Institute,Mountain View, CA) - GABA Receptors, Epilepsy, and angelman syndrome.  
    http://www.armyofangels.org/conference.htm
    
    Extractions: Conference Update June 2000 T H E M E Living With An Angel The sparkling Pacific Ocean and soaring mountain peaks surround a city bathed in brilliant summer sunshine. Welcome to Vancouver, site of this year's millennium Canadian Angelman Syndrome Society's Third International Conference. As we enter this new millennium, it is appropriate that our theme, Living With An Angel, focuses on the future of our special children. Their future is the single thought foremost in our minds. There is so much to consider, so much to plan. There are worries, and there are dreams. And there is so much to learn. The Living With An Angel theme has been applied to a program selected to provide parents, families, caregivers, and health care professionals with practical information that will help our children lead happy and fulfilling lives. The Living With An Angel conference will address many facets of our Angels' lives, from birth through adulthood, including lifelong skills such as communication and education. Health issues will include scoliosis, puberty, and sleep disorders. A planned agenda of topics and activities for the entire conference is included for your information. Seize the opportunity to combine the beauty of Vancouver with learning and sharing experiences with other families. Everyone will appreciate an extra day or two built around the conference to see the sights, especially our American neighbors, whose dollars go further. Living With An Angel will give parents and families the chance to meet new and old friends as we support and encourage each other.

66. Hannaleena Kokkonen. Genetic Changes Of Chromosome Region 15q11-q13 In Prader-Wi
    Keywords angelman syndrome, genetics, genomic imprinting, PraderWilli syndrome.Publication in Adobe PDF-format 1.21 MB; Publication in HTML-format.  
    http://herkules.oulu.fi/isbn9514270274/
    
    Extractions: Library services ... index.html Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland Hannaleena Kokkonen Department of Clinical Genetics, University of Oulu University Hospital of Oulu, University Hospital of Oulu Academic Dissertation to be presented with the assent of the Faculty of Medicine, University of Oulu, for public discussion in the Auditorium 3 of the University Hospital of Oulu, on May 23rd, 2003, at 12 noon. University of Oulu Reviewed by Professor Emeritus Pertti Aula Docent Harriet von Koskull UNIVERSITY OF OULU, OULU FINLAND 2003 ISBN 951-42-7027-4 URN:ISBN:9514270274 The Prader-Willi (PWS) and Angelman (AS) syndromes are clinically distinct developmental disorders which are caused by genetic defects in the imprinted domain at chromosome 15q11-q13, resulting in the loss of paternal (PWS) or maternal (AS) gene function. In this study, the genetic changes of 15q11-q13 and their possible inheritance in Finnish PWS (n=76) and AS (n=47) patients are described. The diagnosis could be confirmed by laboratory methods in all PWS and in 43 (91%) AS patients. A deletion of 15q11-q13 accounted for 76% of the PWS and 67% of the AS patients in whom a specific genetic defect had been established. The origin of deletion was always paternal in PWS and maternal in AS. In PWS, deletions of four different sizes were detected, while in AS only type I or II deletions were found. The smallest overlap of deletions/critical region detected was from locus D15S13 to locus D15S10 in PWS and from locus D15S128 to locus D15S12 in AS. A rare recurrence of del(15)(q11q13) due to maternal germ line mosaicism is described.

67. MARK TERRY
    of the premier symptoms of both angelman and Prader a normal karyotype does not ruleout either syndrome. of the American Society of Human genetics and American  
    http://www.mark-terry.com/adv12.htm
    
    Extractions: MARK TERRY NON-MENDELIAN GENETICS: A TALE OF TWO SYNDROMES by Mark Terry In the two previous columns I’ve discussed some of the characteristics and mechanisms that cause two genetic syndromes: Prader-Willi Syndrome and Angelman Syndrome. Traditional Mendelian genetics involves the transmission of traits from parents to children. Each trait, gene or genetic loci is located on a single chromosome. One chromosome is inherited from the mother and the other is inherited from the father. Prader-Willi and Angelman Syndromes are both usually caused by deletions in the q11 to q13 band region of chromosome 15. However, a complicated Non-Mendelian molecular action referred to as methylation can cause genes to be turned on or off. So when the maternally inherited chromosome 15 is deleted, the child has Angelman Syndrome; when the paternally inherited chromosome 15 is deleted, the child has Prader-Willi Syndrome. That’s what happens when one chromosome is inherited from the mother and one chromosome is inherited from the father. But what happens when both chromosomes of a pair are inherited from one of the parents and none are inherited from the other?

68. MARK TERRY
    the next two will address the complex genetics of imprinting and uniparental disomyby examining two syndromes PraderWilli syndrome and angelman syndrome.  
    http://www.mark-terry.com/adv10.htm
    
    Extractions: MARK TERRY NON-MENDELIAN GENETICS: A TALE OF TWO SYNDROMES Part 1: Prader-Willi and Angelman Syndromes by Mark Terry Today’s column and the next two will address the complex genetics of imprinting and uniparental disomy by examining two syndromes: Prader-Willi Syndrome and Angelman Syndrome. First I want to remind you of a few basic factskeep them in mind because we’ll be discussing their exceptions. First, as Gregor Mendel explained in the mid-1800s, traits are inherited and may have two loci, one of which may be dominant (expressed) and one of which may be recessive (not expressed). Second, in human beings, DNA comes packaged in 23 pairs of chromosomes. Under ordinary circumstances we receive one copy of each pair from our mom and one copy from our dad. Third, at the basic level, a gene will be on both inherited chromosome pairs and will be dominant and/or recessive. Keeping those basic facts of genetics in mind, let’s take a look at two complex syndromes. Prader-Willi Syndrome Prader-Willi Syndrome, or PWS, is typically associated with a deletion of chromosome 15 in the q11 to q13 banding region. It occurs in about 1 in 12,000 to 15,000 people and does not differentiate between sex or race. Neonates and infants display hypotonia, which improves with age. They generally exhibit feeding problems and poor weight gain as infants, which is replaced between age one and six with excessive and/or rapid weight gain leading to obesity, unless there is intervention. This weight gain is the result of one of the more eccentric traits of PWS, which is an obsession with food, and "foraging" behavior. Families with older PWS patients have been forced to padlock their pantries and refrigerators to keep the children from compulsive eating. Some older PWS patients report eating out of Dumpsters because of their compulsion.

69. Angelman Syndrome - Rachel Williams
    As it turned out, Uncle Charlie specialized in the genetics of angelman syndrome.Today I would like to inform you a little about angelman syndrome.  
    http://www.johnwill.net/matthew/rachel1.htm
    
    Extractions: Brevard Community College, Cocoa, Florida My family received a most unique gift one Christmas Day. After three years of trying to find out why my brother, Matthew, was not developing mentally and physically, we met my uncle, Dr. Charles Williams , at a family Christmas gathering. He immediately took us, on Christmas Day, to the University of Florida's genetics research department and diagnosed my brother on the spot. Matthew had Angelman Syndrome. As it turned out, Uncle Charlie specialized in the genetics of Angelman Syndrome. Today I would like to inform you a little about Angelman Syndrome. In the twelve years my brother was alive, I learned a great deal about the scientific nature of this condition as well as how to care for an individual with Angelman. I would like to share some of this information with you by first explaining the history of Angelman Syndrome, as well as a brief description of the characteristics, and finally the role Angelman Syndrome played in my life. English physician, Dr. Harry Angelman, diagnosed Angelman Syndrome in 1965. According to an article by Dr. Angelman entitled, "Puppet Children: A Report on Three Cases," he described three children admitted to his children's ward in England. At first, they seemed to be suffering from different conditions, but he felt there was a common cause for their illness. He described all three as having stiff, jerky movements, no speech, excessive laughter, and seizures. His diagnoses were purely clinical because in spite of technical investigations, which today are more refined, he was unable to establish scientific proof that all three children had the same condition.

70. Prader-Willi/Angelman Syndrome
    PraderWilli/angelman syndrome. genetics - loss of the paternally contributed PWS/ASregion on chromosome 15q11-q13; sporadic; risk of inheritance to siblings  
    http://www.5mcc.com/Assets/SUMMARY/TP0729.html

71. 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.

72. Genetic Syndromes
    Listed below are brief descriptions of some of the syndromes that you will findincluded in in our genetics Library. angelman s syndromeA rare neurogenetic  
    http://specialchildren.about.com/cs/geneticssyndromes/l/aa022499.htm
    
    Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Parenting Special Needs Home Essentials ... 101 Family Activities zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Autism Behaviors Advocacy Development ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Subscribe to the About Parenting Special Needs newsletter. Search Parenting Special Needs Genetic disorders are recognized as syndromes and metabolic disorders, also called inborn errors.  Genetics is a science devoted to studying our inherited biological characteristics. Geneticists are making great strides in identifying and isolating chromosomes that are contributing factors in syndromes. We're on the cutting edge of discovering medical answers to the infinite questions that dictate our very beings.  I strongly believe that as parents we are the ultimate advocates for our children. I just as strongly believe that knowledge empowers us, enabling us to seek quality care for our special children. To the family whose child is affected by a Genetic disorder, answers are of the essence. Please send me information and Web links that will empower families who are parenting our very special children. Listed below are brief  descriptions of some of the Syndromes that you will find included in in our Genetics Library Angelman's Syndrome -A rare neurogenetic disorder. From Angelman Syndrome Foundation, Inc.

73. Prader Willi - Angelman Syndrome
    Additional informationPrader Willi and angelman syndrome PCR Tests pdf file Pleasecall Molecular genetics 919966-4408 before ordering Get Acrobat ReaderPDF  
    http://www.pathology.med.unc.edu/path/labs/test/p/prader_willi.htm
    
    Extractions: Previous page Use your browser's "Back" button to return to the previous page Tube Type Test ID FPPO SMS Browse Prader Willi Syndrome, Angelman Syndrome CPT Codes Laboratory Molecular Genetics Tube Station Specimen Routine: 3 mL blood, yellow top tube (ACD) or lavender top (EDTA) tube; See Important Comments micro: 1.5 mL blood (x3 EDTA pediatric tubes) Availability Routine: Weekly; no Weekends/Holidays STAT: N/A Turnaround Time 21 days Reference Range No evididence of Prader Willi or Angelman genotype Comments Additional information:Prader Willi and Angelman Syndrome PCR Tests pdf file PDF files may be read using the free Acrobat Reader from Adobe Systems Incorporated, which may be downloaded from the Adobe site (http://www.adobe.com/prodindex/acrobat/readstep.html). After installation of the Acrobat Reader, memos may be retrieved by clicking on the Subject. Return to Test Information Introduction Page

74. Chemistry Of The Cell And Genetics
    like to try this well written page on cat coat colour genetics angelman syndrome andPraderWilli syndrome are two different conditions both of which seem to be  
    http://www.ucl.ac.uk/~ucbhjow/bmsi/bmsi_4.html
    
    Extractions: Surprisingly, it is only in the last 50 years that we have begun to understand the nature of the biological events which determine our sex, (and for that matter, why we bother with sex at all and why two sexes are better than three or more). It is not so long ago that women were blamed if they failed to produce a son for their husband and clearly it was thought that the power of sex determination lay within the body of the woman. During this century the chromosomal basis of human sex determination has been demonstrated and in the last few years some of the genes responsible have been identified. The sexual identity of an individual is determined at several levels, chromosomal sex, gonadal sex, somatic sex and sexual orientation. The chromosomal basis of sex determination in humans was recognized when metaphase chromosomes from dividing male and female cells could be studied and counted. The normal karyotype contains 46 chromosomes including either two X chromosomes (46XX, females) or one X chromosome and one Y chromosome (46XY, males). Individuals with or karyotypes are female, individuals with

75. Tokyo Medical University Genetics Prader-Willi Syndrome References
    of Human genetics/American College of Medicalgenetics Test and Technology TransferCommittee Diagnostic testing for PraderWilli and angelman syndromes.  
    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.

76. Tab005mgu: Genetics Of Some Mendelian Disorders That Have Epilepsy As Part Of Th
    Table 5. genetics of some Mendelian disorders that have epilepsy as part of theirphenotype (tab005mgu angelman syndrome Imprinting (loss of maternal information  
    http://www-ermm.cbcu.cam.ac.uk/99001398h.htm

77. Nature Publishing Group
    4 pp 440 443 The imprinting box of the Prader-Willi/angelman syndrome domain 1.Department of Cellular Biochemistry and Human genetics, The Hebrew University  
    http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n4/full/ng1200_4

78. GeneReviews: Angelman Syndrome
    http://www.geneclinics.org/profiles/angelman

79. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
    About Us. Departments. Send an eCard. Ask a Med-U-Nurse. Health Library. Find a Doctor. For Physicians. Job Opportunities. Make a Difference. News Events. Residents Fellows. Your Hospital Visit .  
    http://www.musckids.com/health_library/genetics/uniparen.htm
    
    Extractions: Medical Genetics 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 chromosome #15 from the father (rather than one from the mother and one from the father). What is Prader-Willi syndrome (PWS)?

80. ANGELMAN SYNDROME: Contact A Family - For Families With Disabled Children: Infor
    Inheritance patterns angelman syndrome may arise from a variety of geneticabnormalities, all of which involve the same part of chromosome 15.  
    http://www.cafamily.org.uk/Direct/a54.html
    
    Extractions: 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.

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