61. Department Of Medical Genetics OF MEDICAL genetics. UNIVERSITY OF CALGARY. MOLECULAR DIAGNOSTIC LABORATORY. ALBERTACHILDREN'S HOSPITAL. PWS, AS, PraderWilli syndrome, angelman syndrome. http://www.ucalgary.ca/UofC/faculties/medicine/medgenetics/m-i-pws.htm

DEPARTMENT OF MEDICAL GENETICS UNIVERSITY OF CALGARY MOLECULAR DIAGNOSTIC LABORATORY ALBERTA CHILDREN'S HOSPITAL PWS, AS, Prader-Willi syndrome, Angelman syndrome. Our current standard protocol The SNRPN probe following XbaI/EagI double digestion detects a methylation sensitive EagI site in the Prader Willi/Angelman Chromosomal Region. The maternal chromosome is normally methylated, cannot be cut with EagI, and yields a 4.2 kb maternal band. The paternal chromosome is normally unmethylated and can be cut with EagI to yield a 0.9 kb paternal band. Normal individuals will have both bands present at equal intensity. Almost all PWS individuals show only the 4.2 kb (methylated) band, and approximately 75% of AS individuals show only the 0.9 kb (unmethylated band). This test will not necessarily indicate the reason for the variant methylation patterns observed. Further tests if the above does not provide sufficient information Short tandem repeat (STR) markers from the critical region can be used to look for transmission of parental alleles to the child. This approach cannot easily distinguish between microdeletions or uniparental homodisomy/isodisomy (but FISH might) but may permit the differentiation between either of those and uniparental heterodisomy. We currently use the D15S11, D15S113 and GABRB3 STR markers for this purpose. Possible future developments (Angelman syndrome point mutations) The recent discovery of point mutations in the UBE3A (E6-AP) gene in some patients with Angelman syndrome will permit the characterization of some AS patients who escape detection by the above tests (the 25% of AS patients who have no deletion, UPD, or imprinting anomaly). Sequencing protocols may be developed.

62. Genetics, John F. Kennedy Center For Research On Human Development, Vanderbilt U This project is a continuation of research to delineate the genetics of Alzheimer andmutational analysis of the UBE3A gene in angelman syndrome (funded by http://www.vanderbilt.edu/kennedy/topics/genetics.html

Genetics Also see Down syndrome Prader-Willi syndrome What it is What the Kennedy Center is doing to solve the problem ... Learn more about genetics (links) What topic is Genetics is a conceptually broad term referring both to the science of heredity and the biological process of transmission of characteristics from progenitor to offspring. What the Kennedy Center is doing See Kennedy Center Institute on Genetics and Developmental Pharmacology Cognitive development in children: Genetic markers (National Institute of Child Health and Human Development, 1997-2000) David Lubinski Camilla Benbow co-principal investigators , Vanderbilt site (R. Plomin, PI) General cognitive ability ("g") is one of the most heritable behavioral traits. This study is a continuation of the first project attempting to identify some of the specific genes (quantitative trait loci, or QTLs) responsible for this heritability. The study uses an allelic association strategy with extreme selected groups in order to achieve the statistical power needed to identify QTLs of small effect size. Identifying QTLs will carve out handholds in the climb towards understanding neurophysiological pathways between genes and cognitive development. More immediately, QTL associations will greatly increase our ability to investigate the interplay between genes and environment in cognitive development. A collaborative linkage study of autism (National Institute of Mental Health, 1996-1999)

63. Entrez-PubMed q13 during gametogenesis. MeSH Terms angelman syndrome/genetics*;Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 15*; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

64. Angelman Syndrome of human genes and disorders Information angelman syndrome Foundation, USA providesinformation, education and support GeneClinics a medical genetics resource. http://www.ncbi.nlm.nih.gov/disease/angelman.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on chromosome 15 Databases PubMed the literature Key papers Recent literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Angelman Syndrome Foundation, USA provides information, education and support GeneClinics a medical genetics resource ANGELMAN SYNDROME (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor which includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the 'happy puppet' syndrome. The genetic basis of AS is very complex, but the majority of cases are due to a deletion of segment 15q11-q13 on the maternally derived chromosome 15. When this same region is missing from the paternally derived chromosome, an entirely different disorder, Prader-Willi syndrome, results. This phenomenon - when the expression of genetic material depends on whether it has been inherited from the mother or the father - is termed genomic imprinting.

65. MARK TERRY the characteristics and mechanisms that cause two genetic syndromes PraderWillisyndrome and angelman syndrome. Traditional Mendelian genetics involves the http://www.mark-terry.com/adv12.htm

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?

66. 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

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.

67. Molecular Program Genzyme genetics Molecular Diagnostic Laboratory angelman syndrome (uniparentaldisomy and methylation), Bcell clonality, Bcl-2, bcr-abl, Bloom syndrome http://healthcare.partners.org/humangenetics/hms/molecular.html

Molecular Genetics The Harvard Medical School Genetics Training Program is accredited by the American Board of Medical Genetics to provide training in Clinical Molecular Genetics. Participating laboratories are at Children's Hospital, Massachusetts General Hospital, Brigham and Women's Hospital and Genzyme Genetics. The overall goals of the molecular genetics program are: understand the principles of molecular genetics as applied to diagnostic testing, including direct mutation analysis and linkage analysis become familiar with major techniques used in clinical molecular genetics, including PCR, Southern analysis, DNA sequencing, electrophoresis, and other technologies learn the major clinical indications for molecular testing and the clinical implications of test results learn to calculate genetic risks and integrate molecular and clinical data develop skills in communicating with referring physicians become familiar with clinical disorders amenable to molecular testing appreciate the issues in quality assurance necessary to management of a diagnostic laboratory become sensitive to ethical issues in genetics, particularly those raised by molecular diagnostic testing

68. Genome Research Tracks Down Bad Genes 06/98 which specific brain regions express the angelman syndrome gene. the causes of thesyndrome and forecasting for experimental uses, and welldefined genetics. 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.

69. MEDLINEplus: Genetic Disorders About angelman syndrome (angelman syndrome Foundation); About Fragile X syndrome(National Institute for Biotechnology Information); genetics and Neuromuscular http://www.nlm.nih.gov/medlineplus/geneticdisorders.html

Skip navigation Other health topics: A B C D ... List of All Topics Genetic Disorders Contents of this page: News From the NIH General/Overviews Anatomy/Physiology ... Teenagers Search MEDLINE for recent research articles on Genetic Disorders: General Fragile X Syndrome You may also be interested in these MEDLINEplus related pages: Birth Defects Celiac Disease Cleft Lip and Palate Cystic Fibrosis ... Genetics/Birth Defects Latest News Fetal Genetic Info Found in Mom's Blood (03/17/2003, Reuters Health) From the National Institutes of Health Frequently Asked Questions About Genetics (National Human Genome Research Institute) General/Overviews Genes and Populations (National Institute of General Medical Sciences) Also available in: Spanish Genetic Disorders in Pregnancy (American College of Obstetricians and Gynecologists) Introduction to Chromosome Abnormalities (Chromosome Deletion Outreach) JAMA Patient Page: Genetics (American Medical Association) Anatomy/Physiology Gene-Environment Interaction Fact Sheet (National Center for Environmental Health) Genes and Birth Defects: Common Forms of Inheritance (March of Dimes Birth Defects Foundation) Late-Appearing Defects (March of Dimes Birth Defects Foundation) Multifactorial Inheritance (March of Dimes Birth Defects Foundation) Clinical Trials ClinicalTrials.gov: Genetic Diseases, Inborn

70. U.Va. Researchers Trace Two Childhood Diseases To Specific Allis, Harry Flood Byrd Professor of Biochemistry and Molecular genetics at U asthe seizures and sleep disturbances that occur in angelman syndrome can be http://hsc.virginia.edu/newstips/Archives00/wagstaff-study.html

71. Chapter 1: Links | Course Companion For Children With Disabilities, Fifth Editio Chromosome Translocations.” Information for families. “genetics 101of angelman syndrome.” Definitions and a discussion of inheritance. http://textbooks.brookespublishing.com/batshaw/chapters/01/links.htm

1: Chromosomes and Heredity 2: Birth Defects 3: Growth Before Birth 4: Having a Baby 5: The First Weeks of Life 6: Premature and Small-for-Dates Infants 7: Substance Abuse 8: HIV Infection in Children 9: Nutrition 10: Vision 11: Hearing 12: Communication 13: The Brain and Nervous System 14: Muscles, Bones, and Nerves 15: Mental Retardation 16: Down Syndrome 17: Fragile X Syndrome 18: PKU 19: Dual Diagnosis 20: Pervasive Developmental Disorders 21: Attention Deficits and Hyperactivity 22: Specific Learning Disabilities 23: Cerebral Palsy 24: Neural Tube Defects 25: Epilepsy 26: Traumatic Brain Injury 27: Feeding 28: Dental Care 29: Early Intervention 30: Special Education Services 31: Promoting Adaptive Behavior 32: Technological Assistance 33: Rehabilitation 34: Exercise, Sports, and Recreation 35: Ethical Dilemmas 36: Providing Family-Centered Services 37: Future Expectations 38: Health Care and Finance 1: Chromosomes and Heredity: A Toss of the Dice Links A collection of web pages about various genetic diseases, compiled by the New York University Medical Center. An introduction to the cell cycle and the process of mitosis, including charts, animation, vocabulary, and a quiz; developed by the Biology Project at the University of Arizona.

72. Ils Sont Aux Anges! - Les Dernières Nouvelles Translate this page Susan MALCOLM, Counselling dilemmas associated with the molecular characterisationof two angelman syndrome families, in Journal of Medical genetics, Volume 34 http://membres.lycos.fr/angelman/1nouvel.htm

INDEX Rencontres Comptes-rendus Publications Ajouts La " Canadian Angelman Syndrome Society (CASS) Contact : Bob Thompson ( thompson@intranet.ca Information on the Conference's Web page (hosted by the ASF) : http://www-chem.ucsd.edu/asf/Ottawa.html http://www.mygale.org/02/angelman/cass9801.htm Par en haut ! Symposium sur le syndrome d'Angelman 29 novembre 1997 Lire notre compte-rendu e Rencontres Angelman 97 AFSA du 30 mai (vendredi soir) au 1 juin 1997 (dimanche midi), Lire notre compte-rendu Sleepless in Seattle The 1997 Angelman Syndrome Foundation (ASF) International Conference 3 au 6 juillet 1997 Information from the Seattle Conference Summary of the Medical and Scientific Symposium , by Dr. Charles A. Williams Par en haut ! Simone GILGENKRANTZ, , in Texte complet sur "Ils sont aux anges !" En anglais: Bernard DAN, Abstracts for the First National Symposium on Angelman Syndrome organized by the Angelman Foundation Belgium (Brussels, November 29, 1997): Introduction , in European Journal of Paediatric Neurology , Volume 1, Number 4, pages A1-A8. (November 1997)

73. Pick Up From Where Dan’s Genetics Explanation Leaves Off The Pathogenesis of angelman syndrome Journal Article Summary. In1997, Sutcliffe et al. narrowed down the region implicated in http://www.haverford.edu/psych/biopsych217b/Angelman/Pathogenesis.htm

The Pathogenesis of Angelman Syndrome: Journal Article Summary In 1997, Sutcliffe et al. narrowed down the region implicated in AS to a250 kb region which contains the entire transcriptional unit of theE6-AP ubiquitin-protein . The gene of interest in AS has been identified as UBE3A, so named because it encodes a protein called E6-AP ubiquitin protein ligase. UBE3A functions as part of the ubiquitin proteasome pathway responsible for protein degradation.It was first discovered from research on human papilloma virus, and appears to promote the degradation of p53 (an oncoprotein) in association with theE6 protein. E6-AP is a member of the E3 family of ligases, so grouped for their ability to bind ubiquitin, and facilitate its transfer to a protein targeted for degradation. Degradation of proteins is a normal and crucial aspect of cellular processing; normal ubiquitin function is vital for the regulation of the cell cycle, transcription, and synaptic plasticity, among other processes. In normal cases, the child inherits both copies of UBE3A, but only the mother’s copy is active. Individuals with Angelman syndrome lack a working copy ofUE3A; the resulting phenotype of the disease results from this genetic deficiency. Sutcliffe et al. established that the entire UBE3A gene lies within the stretch previously identified as the affected region in Angelman Syndrome. As of now, researchers have only identified two proteins known to be degradation targets of E6-AP, p53 and HHR23A, though others may and probably do exist.

74. AS Links Angels Among Us Very comprehensive resource The Communication Skills of Childrenwith AS The genetics of angelman syndrome Very Interesting Informative! http://www.coastwebdesigns.com/asa/html/body_as_links.html

Links to other Angelman Syndrome Resources: The IASO (International Angelman Syndrome Organization) Website Angelman Syndrome Foundation (USA) Website The Finnish AS Website The Norwegian Society for Angelman Syndrome Website ... The 4th Biennial ASA National Conference in Melbourne - 1999 For more information on AS please fill out our More Information Request Form Read the latest Angelman Syndrome Association Newsletter ASA Home What is AS? Is there a Cure for AS? ... Parental Experiences Click on the Site Map for easy Navigation Questions or Comments? email: kevink@angelmansyndrome.org Professional Websites email: webmaster@coastwebdesigns.com

75. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... Database of Chromosomal Abnormalities Southeastern Regional genetics Group (US Pallister-Killiansyndrome (Tetrasomy 12p). angelman syndrome angelman syndrome http://www.mic.ki.se/Diseases/c16.html

search help staff Congenital, Hereditary, and Neonatal Diseases and Abnormalities (including Pediatrics) Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping P Murphy Human Disease Maps J Frezal ] - GENATLAS (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com Prenatal Diagnosis GR DeVore ] - Fetal.Com Prenatal Diagnosis [images; EC Klatt PEDIATRICS Harriet Lane WWW Links ('Pediatric Points of Interest') CU Lehmann ] - Johns Hopkins U. Child and Teen Health Topics - Medline Plus , NLM(US) Acute Pediatric Care - Univ of Minnesota (US) Children's Hospital Handbook, 1999

76. RS Vs Angelman Syndrome - From Sep 97 To Apr 98 Subj angelman syndrome. Date 9709-14 050346 EDT. Dear Rettnetters,. Just toclarify that the genetics of angelmans syndrome is fairly complicated and not yet http://www.rettsyndrome.org/digests/00028.htm

What is Rett Syndrome? New to our website Meet some Rett angels Genetics ... Links RS vs Angelman Syndrome [from Sep 97] Subj: Angelman Syndrome Date: 97-09-12 00:28:20 EDT Hi Rettneters - she asked me if anyone had ever suggested Angelman Syndrome as a diagnosis for Stefanie. I've heard of it, vaguely, and did some internet research this afternoon on it, and evidently it's a syndrome that is easily confused with Rett Syndrome so that girls could be misdiagnosed. Evidently, there's a test for it - most of the kids have a deletion on chromosome 15, so I guess we'll have the test done (a blood test), but I was just wondering if any of you had received Angelman's as a possible diagnosis for your daughter. Stefanie doesn't really totally fit the criteria for Angelman's (although she also doesn't totally fit the criteria for Rett's either, hence the "atypical" label), so I'm curious. Maybe IRSA/Kathy Hunter could help clarify for me here, too. Thanks in advance - we've already had her diagnosed with ataxic CP and had to deal with the new diagnosis of Rett's 3 years ago, so I feel like here we go again...

77. 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

Expert Reviews in Molecular Medicine: http://www-ermm.cbcu.cam.ac.uk Accession information: (99)00139-8h.htm (shortcode: tab005mgu); 10 December 1999 Reprint/PDF version Discussion Group Back to main article Genetics of some Mendelian disorders that have epilepsy as part of their phenotype Louise Bate and Mark Gardiner Author contact details Table 5. Genetics of some Mendelian disorders that have epilepsy as part of their phenotype (tab005mgu) Gene locus, chromosomal location and gene product and function Refs Tuberous sclerosis complex Autosomal dominant. Fragile X syndrome X-linked. Angelman syndrome Rett syndrome Might be X-linked dominant. Neuro-fibromatosis Autosomal dominant. HD (or huntingtin); 4p16.3; Abbreviations used: EEG = electroencephalogram; GTCS = generalised tonic-clonic seizures; GTPase = GTP phosphohydrolase. References cited in Table 5 PubMed PubMed PubMed PubMed ... Cambridge University Press ISSN 1462-3994 Editorial Office: Clinical and Biomedical Computing Unit , University of Cambridge School of Clinical Medicine, Box 111, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2SP, UK. Tel: +44 (0)1223 400 062; Fax: +44(0)1223 400060; E-mail:

78. Angelman Syndrome Information about angelman syndrome from the University of Washington, Seattle.Category Health Conditions and Diseases angelman syndrome...... ultrasound measurements. Molecular genetics. Table 3. Molecular geneticsof angelman syndrome. Gene, Locus, Product, Genomic Databases. http://www.geneclinics.org/profiles/angelman/details.html

Angelman Syndrome Authors: Charles A Williams, MD Amy C Lossie, PhD Daniel J Driscoll, PhD, MD University of Florida College of Medicine Initial Posting: 15 September 1998 Last Revision 2 April 2002 Summary Disease characteristics. Angelman syndrome (AS) is characterized by: 1) severe developmental delay or mental retardation; 2) severe speech impairment; 3) gait ataxia and/or tremulousness of the limbs; and 4) a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly and seizures are common. Diagnosis/testing. Consensus clinical diagnostic criteria for AS have been developed, but the mainstay of diagnosis testing is: 1) analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region, which detects ~78% of patients with AS, including those with a deletion, uniparental disomy, or imprinting defect; and 2) sequence analysis, which detects an additional ~11% of patients. Less than 1% of patients have a cytogenetically visible chromosome rearrangement. The remaining ~11% patients with classic phenotypic features of AS have a presently unidentified genetic mechanism and thus are not amenable to diagnostic testing. Genetic counseling.

79. Tests Available At The H MOLECULAR genetics TESTS. Achondroplasia Alagille syndrome (Jagged 1) angelman syndrome(Methylation) angelman syndrome (UPD) Becker muscular dystrophy Beckwith http://genetics.hillcrest.com/services/lab/mollab/available_tests.asp

Tests Available at the H.A. Chapman Institute CYTOGENETIC TESTS (CHROMOSOME ANALYSIS) Non-Neoplastic Tissues Amniotic fluid Blood – Routine Blood – High Resolution Products of Conception Skin Neoplastic Tissues Bone Marrow Blood – for Leukemia/Lymphoma Study Solid Tumor Specialized Studies Bloom Syndrome (SCE) - Blood Fanconi Anemia (DEB) - Blood Mosaicism - Blood Mosaicism - Skin Special Staining (CBG, NOR) Cell Culture Only Amniotic Fluid Blood Bone Marrow Skin or Solid Tissue Freezing of Cell Line Retrieval/Culture of Frozen Cell Line Fluorescence in situ Hybridization (FISH Tests) Angelman syndrome Cri-du-chat syndrome DiGeorge syndrome HER-2/neu oncogene Kallman syndrome Miller-Dieker syndrome Prader-Willi syndrome Smith-Magenis syndrome Velocardiofacial syndrome Williams syndrome Wolf-Hirschhorn syndrome Others as needed on a case-by-case basis PRENATAL BIOCHEMICAL TESTS Acetylcholinesterase Amniotic fluid alpha-fetoprotein (AF-AFP) Maternal serum alpha-fetoprotein (MS- AFP) Maternal serum AFP / free-b hCG (double screen) Maternal serum AFP / hCG / estriol (triple screen) Fetal hemoglobin PAPP-A BIOCHEMICAL GENETICS TESTS Alloisoleucine Amino acid screening panel Branched chain amino acid screening panel (Alloisoleucine, Isoleucine, Leucine, Valine)

80. Angelman Syndrome (03) 9564 7511. Things to remember angelman syndrome is a neurological disordercaused by a missing section of chromosome 15. Genes and genetics. http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Angelman_syndrome

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