Faravareh Khordadpoor (PhD in molecular genetics) 1- Tehran Medical Genetics Laboratory 2- Science and research branch, Islamic Azad University
|
|
- Eustace Ellis
- 5 years ago
- Views:
Transcription
1 Faravareh Khordadpoor (PhD in molecular genetics) 1- Tehran Medical Genetics Laboratory 2- Science and research branch, Islamic Azad University مشاوره ژنتیک و نقش آن در پیش گیری از معلولیت ها 20 مرداد و 1
2 CMA is a technology used to determine if there are small extra (micro-duplication) or missing (micro-deletion) pieces of genetic information. These gains and losses are called copy number variants (CNVs). Developmental delay Intellectual disabilities Congenital anomalies (heart defects, primary microcephaly, short stature and failure to thrive, etc.) Autistic spectrum disorders Cancer studies 2
3 3
4 4
5 5
6 6
7 CMA Methodology Analyze Cy3/Cy5 fl of patient t Cy3/Cy5 ratio >1 Duplication Cy3/Cy5 ratio <1 Deletion 7
8 Log 2 -ratio Xp21 Complex Glycerol Kinase Deficiency 6.66 Mb deletion Start: End: X chromosome 8
9 9
10 10
11 11
12 12
13 CNVs are common in all genomes surveyed Blue = pathogenic Red = deletion Green = duplication 13
14 14
15 15
16 16
17 17
18 He had MR, speech delay, dermatitis, macrocephaly, round face, low hair line, broad cheeks, prominent maxilla, hypertlorism, upslanting palpebral fissures, retrognathia, epicanthic folds, glaucoma/ buphthalmos, broad nasal bridge, abnormal nasal septum, small and downturned mouth, thick lips, high vaulted and narrow palate, tooth crown shape abnormality, oligodontia, dental caries, flat philtrum, posterior angulation of ears, anteverted/ bat ears, ear lobe abnormal size, short neck, umbilical hernia, inguinal hernia, scoliosis, lordosis, large hand, small penis, coxavara, coloboma of the eyelid, abnormally placed nipples, umbilical hernia, mild arachnodactyly, large foot, overlapping toes and knock knees- genu valgum 18
19 19
20 20
21 21
22 The three basic designs in acgh DNA probes in a whole genome or constitutive array represent sequences that are approximately evenly spaced across the length of a chromosome. Targeted arrays have probes corresponding to genes of interest and disproportionately represent exons or coding sequences. The lower panel shows a combination design that is a constitutive array with limited targeted genes. The widely spaced probes along the chromosomes are termed backbone probes 22
23 23
24 24
25 25
26 26
27 27
28 Indication Advanced maternal age, multiple soft markers on ultrasound, ultrasound anomaly, positive prenatal screen, etc. Genetic counselling with testing options No further testing Karyotype Invasive Testing (diagnostic) QF-PCR Detects common aneuploidies: Down syndrome, Trisomy 18, Trisomy 13 and sex chromosome aneuploidies Screening Test e.g. NIPT If positive If negative Depending on indication: No further testing Consider additional testing Additional Testing e.g. Chromosomal microarray 28
29 A systematic review of the literature was conducted to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. 12,362 cases from all prenatal ascertainment groups 1 i.e. abnormal ultrasound, advanced maternal age, prenatal screening, parental anxiety 2.4% had a clinically significant copy number variant (CNV) (295/12,362) 3,090 abnormal ultrasound 1 6.5% had clinically significant CNV (201/3,090) Variant of Unknown significance (VUS) are found in about 1% of cases 2,3 4,164 other indications 1 1.1% had clinically significant CNV (44/4,164) [1] Callaway et al 2013 Prenat Diagn [2] Shaffer et al 2012 Prenat Diagn [3] Wapner et al 2012 NEJM 5,108 AMA 1 1.0% had clinically significant CNV (50/51,08) 29
30 Normal No copy number variant (microdeletion/microduplication) detected Does not exclude a syndrome caused by a mutation within a single gene or detect a balanced translocation Pathogenic Copy Number Variant has been previously described and associated with a known phenotype Incidental finding Results that are not apparently relevant to indication for which test was ordered Variant of uncertain significance (VOUS/VUS) Not yet described in the literature, is challenging to interpret and benefits from knowledge of parental status 30
31 VUS identified in fetus Test parents Neither parent has the VUS identified in the pregnancy (both have a normal result) Barring nonpaternity, the finding in fetus is new, de novo, and likely pathogenic One parent has same CMA result as child Finding in the fetus is pathogenic, and the parent displays reduced penetrance (not everyone with the CNV will have symptoms), variable expressivity (individuals with this CNV have varied presentation) Finding in the fetus is a normal familial variant and not pathogenic 31
32 32
33 There is variability in practice with regards to who will be offered CMA Consent process, pre- and post- test counselling are complicated A description of the test The type of sample required Potential benefits and limitations of testing The possible outcomes of testing. An informed consent document Need the parental samples Positive results Negative results 33
34 Take a family history to identify familial and/or ethnicity-specific disorders and screen accordingly Consider consanguinity and screen and test accordingly Refer or consult genetics when in doubt 34
35 September 28, 2010 ACMG Recommends Replacing Karyotyping with Chromosomal Microarrays as 'First-Line' Postnatal Test Microarrays should be used instead of G- banded karyotyping as the first test to detect genetic abnormalities in postnatal evaluations, according to the American College of Medical Genetics. 35
36 Microduplication of an Entire Single PTCH1 gene Gene 360 kb duplication in 9q22.32 In a 21-month-old boy with developmental delay, failure to thrive, and microcephaly. The same duplication was identified in his mother who had microcephaly and mild intellectual delays. 36
37 Duplication Involving the 5ʹ A gain of 33 oligos covering the 5ʹ portion of the b isoform of the NRXN1 gene on chromosome 2p16.3 End of the Gene In a patient with pervasive developmental delay and autism. This duplication was not found in the patient s mother; the patient s biological father was not available for analysis. 37
38 38
39 39
40 40
41 41
42
43 43
44 44 با تشکر از توجه شما
Approach to Mental Retardation and Developmental Delay. SR Ghaffari MSc MD PhD
Approach to Mental Retardation and Developmental Delay SR Ghaffari MSc MD PhD Introduction Objectives Definition of MR and DD Classification Epidemiology (prevalence, recurrence risk, ) Etiology Importance
More informationApplications of Chromosomal Microarray Analysis (CMA) in pre- and postnatal Diagnostic: advantages, limitations and concerns
Applications of Chromosomal Microarray Analysis (CMA) in pre- and postnatal Diagnostic: advantages, limitations and concerns جواد کریمزاد حق PhD of Medical Genetics آزمايشگاه پاتوبيولوژي و ژنتيك پارسه
More informationMultiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016
Multiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016 Marwan Tayeh, PhD, FACMG Director, MMGL Molecular Genetics Assistant Professor of Pediatrics Department of Pediatrics
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: LOSS,
More informationSharan Goobie, MD, MSc, FRCPC
Sharan Goobie, MD, MSc, FRCPC Chromosome testing in 2014 Presenter Disclosure: Sharan Goobie has no potential for conflict of interest with this presentation Objectives Review of standard genetic investigations
More informationChallenges of CGH array testing in children with developmental delay. Dr Sally Davies 17 th September 2014
Challenges of CGH array testing in children with developmental delay Dr Sally Davies 17 th September 2014 CGH array What is CGH array? Understanding the test Benefits Results to expect Consent issues Ethical
More informationCURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi
2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000
More informationCHROMOSOMAL MICROARRAY (CGH+SNP)
Chromosome imbalances are a significant cause of developmental delay, mental retardation, autism spectrum disorders, dysmorphic features and/or birth defects. The imbalance of genetic material may be due
More informationWhat s the Human Genome Project Got to Do with Developmental Disabilities?
What s the Human Genome Project Got to Do with Developmental Disabilities? Disclosures Neither speaker has anything to disclose. Phase Two: Interpretation Officially started in October 1990 Goals of the
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: GAIN,
More informationPrenatal Diagnosis: Are There Microarrays in Your Future?
Financial Disclosure UCSF Antepartum Intrapartum Management Course June 8 I have no financial relationship with any aspect of private industry Prenatal Diagnosis: Are There Microarrays in Your Future?
More informationClinical evaluation of microarray data
Clinical evaluation of microarray data David Amor 19 th June 2011 Single base change Microarrays 3-4Mb What is a microarray? Up to 10 6 bits of Information!! Highly multiplexed FISH hybridisations. Microarray
More informationCorporate Medical Policy
Corporate Medical Policy Invasive Prenatal (Fetal) Diagnostic Testing File Name: Origination: Last CAP Review: Next CAP Review: Last Review: invasive_prenatal_(fetal)_diagnostic_testing 12/2014 3/2018
More informationDysmorphology. Sue White. Diagnostic Dysmorphology, Aase. Victorian Clinical Genetics Services
Dysmorphology Sue White www.rch.unimelb.edu.au/nets/handbook Diagnostic Dysmorphology, Aase Dysmorphology Assessment Algorithm no Are the features familial? yes Recognised syndrome yes no AD/XL syndrome
More informationChromosome microarray analysis in routine prenatal diagnosis practice: a prospective study on 3000 consecutive clinical cases
Chromosome microarray analysis in routine prenatal diagnosis practice: a prospective study on 3000 consecutive clinical cases Fiorentino F, Napoletano S, Caiazzo F, Sessa M, Bono S, Spizzichino L, Gordon
More informationGenetic Testing 101: Interpreting the Chromosomes
Genetic Testing 101: Interpreting the Chromosomes Kristin Lindstrom, MD Division of Genetics and Metabolism Phoenix Children s Hospital AzAAP Pediatrics in the Red Rocks I have no disclosures for this
More informationSeven cases of intellectual disability analysed by genomewide SNP analysis. Rodney J. Scott
Seven cases of intellectual disability analysed by genomewide SNP analysis Rodney J. Scott Ability to interrogate Genomic Material ~1930 Crude analyses 2012 Highly precise analyses A (very) brief history
More informationCopy Number Variants of Uncertain Significance in Prenatal diagnosis Are the Goalposts Moving? Lisa Burvill-Holmes Bristol Genetics Laboratory
Copy Number Variants of Uncertain Significance in Prenatal diagnosis Are the Goalposts Moving? Lisa Burvill-Holmes Bristol Genetics Laboratory http://www.nbt.nhs.uk/genetics Microarray CGH in Prenatal
More informationCHROMOSOMAL NUMERICAL ABERRATIONS INSTITUTE OF BIOLOGY AND MEDICAL GENETICS OF THE 1 ST FACULTY OF MEDICINE
CHROMOSOMAL NUMERICAL ABERRATIONS INSTITUTE OF BIOLOGY AND MEDICAL GENETICS OF THE 1 ST FACULTY OF MEDICINE CHROMOSOMAL ABERRATIONS NUMERICAL STRUCTURAL ANEUPLOIDY POLYPLOIDY MONOSOMY TRISOMY TRIPLOIDY
More informationGenetic Testing for Single-Gene and Multifactorial Conditions
Clinical Appropriateness Guidelines Genetic Testing for Single-Gene and Multifactorial Conditions EFFECTIVE DECEMBER 1, 2017 Appropriate.Safe.Affordable 2017 AIM Specialty Health 2069-1217 Table of Contents
More informationApproach to the Genetic Diagnosis of Neurological Disorders
Approach to the Genetic Diagnosis of Neurological Disorders Dr Wendy Jones MBBS MRCP Great Ormond Street Hospital for Children National Hospital for Neurology and Neurosurgery What is a genetic diagnosis?
More informationMedical Policy. MP Invasive Prenatal (Fetal) Diagnostic Testing
Medical Policy MP 2.04.116 BCBSA Ref. Policy: 2.04.116 Last Review: 04/30/2018 Effective Date: 04/30/2018 Section: Medicine Related Policies 2.04.59 Genetic Testing for Developmental Delay/Intellectual
More informationCHROMOSOME MICROARRAY TESTING
CHROMOSOME MICROARRAY TESTING UnitedHealthcare Commercial Medical Policy Policy Number: 2017T0559J Effective Date: August 1, 2017 Table of Contents Page INSTRUCTIONS FOR USE... 1 BENEFIT CONSIDERATIONS...
More informationGenetic Testing for the Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Genetic Testing for the Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Policy Number: 2.04.59 Last Review: 5/2018 Origination: 5/2015 Next Review: 5/2019
More informationHuman Genetic Variation Copy Number Variation
The Evolution of Laboratory Prenatal Diagnosis Lawrence D. Platt, MD Professor of Obstetrics and Gynecology David Geffen School of Medicine at UCLA Center for Fetal Medicine & Women s Ultrasound Los Angeles,
More informationNational Medical Policy
National Medical Policy Subject: Policy Number: Single Nucleotide Polymorphism (SNP) Chromosomal Microarray Analysis for Prenatal Testing and Intellectual Disability, Developmental Delay, and Multiple
More informationRACP Congress 2017 Genetics of Intellectual Disability and Autism: Past Present and Future 9 th May 2017
RACP Congress 2017 Genetics of Intellectual Disability and Autism: Past Present and Future 9 th May 2017 Why causation? Explanation for family Prognosis Recurrence risk and reproductive options Guide medical
More informationGenetics and Genomics: Applications to Developmental Disability
Tuesday, 12:30 2:00, B1 Objective: Genetics and Genomics: Applications to Developmental Disability Helga Toriello 616-234-2712 toriello@msu.edu Identify advances in clinical assessment and management of
More informationClinical Policy Title: Array comparative genomic hybridization testing
Clinical Policy Title: Array comparative genomic hybridization testing Clinical Policy Number: 02.01.03 Policy contains: Chromosomal microarray analysis. Effective Date: September 1, 2015 Comparative genomic
More informationInvestigation of chromosomal abnormalities and microdeletions in 50 patients with multiple congenital anomalies
Investigation of chromosomal abnormalities and microdeletions in 50 patients with multiple congenital anomalies Akbar Mohammadzadeh MD, PhD candidate in Medical Genetics Genetics Research Center University
More informationGenetic Counselling in relation to genetic testing
Genetic Counselling in relation to genetic testing Dr Julie Vogt Consultant Geneticist West Midlands Regional Genetics Service September 2016 Disclosures for Research Support/P.I. Employee Consultant Major
More informationCase 1B. 46,XY,-14,+t(14;21)
Case 1B 46,XY,-14,+t(14;21) G-banded Chromosome telomere centromere G-dark bands AT-rich few genes G-pale bands GC-rich many genes telomere ideograms ideograms Conventional (light microscopy) p = short
More informationSection: Medicine Effective Date: January15, 2016 Subsection: Pathology/Laboratory Original Policy Date: December 7, 2011 Subject:
Section: Medicine Effective Date: January15, 2016 Last Review Status/Date: December 2015 Page: 1 of 22 Microarray Analysis and Next-Generation Autism Spectrum Disorder and/or Congenital Description Chromosomal
More informationLab #10: Karyotyping Lab
Lab #10: Karyotyping Lab INTRODUCTION A karyotype is a visual display of the number and appearance of all chromosomes from a single somatic cell. A normal human karyotype would reveal 46 chromosomes (22
More informationThis fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing.
11111 Fact Sheet 54 FRAGILE X SYNDROME This fact sheet describes the condition Fragile X and includes a discussion of the symptoms, causes and available testing. In summary Fragile X is a condition caused
More informationCGH microarray studies in idiopathic developmental/ cognitive impairment: association of historical and clinical features and the De Vries Score
Clinical science Acta Medica Academica 2011;40(1):17-26 DOI 10.5644/ama2006-124.4 CGH microarray studies in idiopathic developmental/ cognitive impairment: association of historical and clinical features
More informationKlinefelter syndrome ( 47, XXY )
Sex Chromosome Abnormalities, Sex Chromosome Aneuploidy It has been estimated that, overall, approximately one in 400 infants have some form of sex chromosome aneuploidy. A thorough discussion of sex chromosomes
More informationGenetics update and implications for (General) Practice
Genetics update and implications for (General) Practice May 12 th 2018 Women s Health Symposium Clearwater Estate Dr Kate Gibson MB BCh, MRCP, FRACP Topics NZ Clinical Genetics delivery New Technologies
More informationClinical Genomics. Ina E. Amarillo, PhD FACMGG
Clinical Genomics Ina E. Amarillo, PhD FACMGG Associate Medical Director, Cytogenetics Lab (CaTG), Lab and Genomic Medicine Assistant Professor, Pathology and Immunology Outline Clinical Genomics Testing
More informationPROVIDER POLICIES & PROCEDURES
PROVIDER POLICIES & PROCEDURES COMPARATIVE GENOMIC HYBRIDIZATION (CGH) MICROARRAY TESTING FOR DEVELOPMENTAL DELAY, AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY The purpose of this policy is to
More informationInvasive Prenatal (Fetal) Diagnostic Testing
Protocol Invasive Prenatal (Fetal) Diagnostic Testing (204116) Medical Benefit Effective Date: 04/01/18 Next Review Date: 01/19 Preauthorization Yes Review Dates: 01/15, 01/16, 01/17, 01/18 Preauthorization
More informationSupplementary Clinical Information
Supplementary Clinical Information Patient 1 This female was born as the second child of a twin after a pregnancy duration of 32 weeks. The birth was otherwise uncomplicated and her twin brother was healthy.
More informationPractical challenges that copy number variation and whole genome sequencing create for genetic diagnostic labs
Practical challenges that copy number variation and whole genome sequencing create for genetic diagnostic labs Joris Vermeesch, Center for Human Genetics K.U.Leuven, Belgium ESHG June 11, 2010 When and
More informationGENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP
GENETICS ROTATION OBJECTIVES MATERNAL-FETAL MEDICINE FELLOWSHIP University of New Mexico 1. General Description: UNM MFM fellows rotate through genetics during their PGY5 and PGY7 years. The PGY5 fellow
More informationSNP Microarray. Prenatal
SNP Microarray Prenatal SNP Microarray Reveal SNP Microarray is a test that analyzes chromosomes for changes that can explain certain kinds of birth defects. This brochure is designed to answer some of
More informationGenetics and Developmental Disabilities. Stuart K. Shapira, MD, PhD. Pediatric Genetics Team
Genetics and Developmental Disabilities Stuart K. Shapira, MD, PhD Pediatric Genetics Team National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention The
More informationPOLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT VARIATIONS DISCLAIMER CODING INFORMATION REFERENCES POLICY HISTORY
Original Issue Date (Created): April 26, 2011 Most Recent Review Date (Revised): January 28, 2014 Effective Date: June 1, 2014 POLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT
More informationGenetic Testing Methods
THE JACKSON LABORATORY Genetic Testing Methods CLINICAL AND CONTINUING EDUCATION About this resource THE GOAL The goal of this resource is to improve the primary care provider s knowledge about commonly
More informationAssociation for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology
Association for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology 9650 Rockville Pike, Bethesda, Maryland 20814 Tel: 301-634-7939 Fax: 301-634-7990 Email:
More informationImplementation of the DDD/ClinGen OGT (CytoSure v3) Microarray
Implementation of the DDD/ClinGen OGT (CytoSure v3) Microarray OGT UGM Birmingham 08/09/2016 Dom McMullan Birmingham Women's NHS Trust WM chromosomal microarray (CMA) testing Population of ~6 million (10%)
More informationClinical Policy Title: Array comparative genomic hybridization testing
Clinical Policy Title: Array comparative genomic hybridization testing Clinical Policy Number: 02.01.03 Effective Date: Sept 1, 2015 Initial Review Date: May 13, 2013 Most Recent Review Date: September
More informationCHROMOSOME MICROARRAY TESTING (NON-ONCOLOGY CONDITIONS)
CHROMOSOME MICROARRAY TESTING (NON-ONCOLOGY CONDITIONS) UnitedHealthcare Oxford Clinical Policy Policy Number: LABORATORY 016.12 T2 Effective Date: June 1, 2018 Table of Contents Page INSTRUCTIONS FOR
More informationNature Genetics: doi: /ng Supplementary Figure 1. PCA for ancestry in SNV data.
Supplementary Figure 1 PCA for ancestry in SNV data. (a) EIGENSTRAT principal-component analysis (PCA) of SNV genotype data on all samples. (b) PCA of only proband SNV genotype data. (c) PCA of SNV genotype
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISEASE/CONDITION POPULATION TRIAD Submitting laboratory: Manchester RGC Approved: September 2013
More informationWhat dysmorphologists should keep in mind during evaluation of patients with blepharophimosis and mental disability?
What dysmorphologists should keep in mind during evaluation of patients with blepharophimosis and mental disability? Aleksandra Jezela-Stanek, M.D., Ph. D. The Children s Memorial Health Institute, Warsaw
More informationNovember 9, Johns Hopkins School of Medicine, Baltimore, MD,
Fast detection of de-novo copy number variants from case-parent SNP arrays identifies a deletion on chromosome 7p14.1 associated with non-syndromic isolated cleft lip/palate Samuel G. Younkin 1, Robert
More informationArabian Gulf University Kingdom of Bahrain Year 5 Pediatrics 2 nd Week Dr. Zakariya Al-Akri Common and Uncommon Conditions
Arabian Gulf University Kingdom of Bahrain Year 5 Pediatrics 2 nd Week Dr. Zakariya Al-Akri Common and Uncommon Conditions - Case (1): sunset eye appearance which occurs with increased intracranial pressure
More informationIncreasing the Sensitivity of Genomic Assays Permits a Higher Resolution Study of the Human Genome. Our Current Knowledge of Genetics and Genomics
Our Current Knowledge of Genetics and Genomics Unlocking the Diagnostic Potential of Genomic Medicine The Beaumont DNA Array Experience Mark Micale, Ph.D., F.A.C.M.G. Medical Director, Clinical Cytogenomics
More informationBenefits and pitfalls of new genetic tests
Benefits and pitfalls of new genetic tests Amanda Krause Division of Human Genetics, NHLS and University of the Witwatersrand Definition of Genetic Testing the analysis of human DNA, RNA, chromosomes,
More informationAmerican Psychiatric Nurses Association
Francis J. McMahon International Society of Psychiatric Genetics Johns Hopkins University School of Medicine Dept. of Psychiatry Human Genetics Branch, National Institute of Mental Health* * views expressed
More informationSWISS SOCIETY OF NEONATOLOGY. Yunis-Varon syndrome
SWISS SOCIETY OF NEONATOLOGY Yunis-Varon syndrome January 2003 2 Heyland K, Hodler C, Bänziger O, Neonatology, University Children s Hospital of Zurich, Switzerland Swiss Society of Neonatology, Thomas
More informationNew and Developing Technologies for Genetic Diagnostics National Genetics Reference Laboratory (Wessex) Salisbury, UK - July 2010 BACs on Beads
New and Developing Technologies for Genetic Diagnostics National Genetics Reference Laboratory (Wessex) Salisbury, UK - July 2010 BACs on Beads Susan Gross, MD Division of Reproductive Genetics Professor
More informationCase Report Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports
Case Reports in Genetics Volume 2012, Article ID 878796, 5 pages doi:10.1155/2012/878796 Case Report Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports F. Sheth,
More informationClinical Interpretation of Cancer Genomes
IGENZ Ltd, Auckland, New Zealand Clinical Interpretation of Cancer Genomes Dr Amanda Dixon-McIver www.igenz.co.nz 1992 Slovenia and Croatia gain independence USA and Russia declare the Cold War over Steffi
More informationCanadian College of Medical Geneticists (CCMG) Cytogenetics Examination. May 4, 2010
Canadian College of Medical Geneticists (CCMG) Cytogenetics Examination May 4, 2010 Examination Length = 3 hours Total Marks = 100 (7 questions) Total Pages = 8 (including cover sheet and 2 pages of prints)
More informationChromosome Disease. The general features in autosome abnormalities are a triad of growth retardation, mental
Medical Genetics Chapter4 Chromosome Disease Chromosome Disease Clinical feature The general features in autosome abnormalities are a triad of growth retardation, mental retardation, and specific somatic
More informationWhole-Genome SNP Array Analysis Genomic Complexity and Clinical Relevance in Prenatal, Postnatal, and Oncology Testing
The Evolution of Cytogenetics Testing Whole-Genome SNP Array Analysis Genomic Complexity and Clinical Relevance in Prenatal, Postnatal, and Oncology Testing Mark Micale, Ph.D., F.A.C.M.G. Medical Director,
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name OMIM number for disease 147920 Disease alternative names Please provide any alternative
More informationUNIT IX: GENETIC DISORDERS
UNIT IX: GENETIC DISORDERS Younas Masih Lecturer New Life College Of Nursing Karachi 3/4/2016 1 Objectives By the end of this session the Learners will be able to, 1. Know the basic terms related genetics
More informationMost severely affected will be the probe for exon 15. Please keep an eye on the D-fragments (especially the 96 nt fragment).
SALSA MLPA probemix P343-C3 Autism-1 Lot C3-1016. As compared to version C2 (lot C2-0312) five reference probes have been replaced, one reference probe added and several lengths have been adjusted. Warning:
More information(i) Family 1. The male proband (1.III-1) from European descent was referred at
1 Supplementary Note Clinical descriptions of families (i) Family 1. The male proband (1.III-1) from European descent was referred at age 14 because of scoliosis. He had normal development. Physical evaluation
More informationPedigree Analysis. Genetic disorders. Dominant inheritance. Recessive inheritance. Autosomal vs. sex-linked traits. X-linked recessive inheritance
Genetic disorders 4.2 Errors During Meiosis 5.3 Following Patterns of Human nheritance Pedigree Analysis 2005 Lee Bardwell Autosomal vs. sex-linked traits Autosomal traits are caused by genes on autosomes
More informationEvolution of Genetic Testing. Joan Pellegrino MD Associate Professor of Pediatrics SUNY Upstate Medical University
Evolution of Genetic Testing Joan Pellegrino MD Associate Professor of Pediatrics SUNY Upstate Medical University Genetic Testing Chromosomal analysis Flourescent in situ hybridization (FISH) Chromosome
More informationProtocol. Genetic Testing for Developmental Delay and Autism Spectrum Disorder
Genetic Testing for Developmental Delay and Autism Spectrum (20459, 20483, 20481) Medical Benefit Effective Date: 01/01/18 Next Review Date: 09/18 Preauthorization Yes Review Dates: 09/10, 09/11, 03/12,
More informationCommon Genetic syndromes. Dr. E.M. Honey Department Genetics Division Human Genetics University of Pretoria
Common Genetic syndromes Dr. E.M. Honey Department Genetics Division Human Genetics University of Pretoria Definitions Deformation Malformation Disruption Dysplasia Syndrome Associations Complex Sequences
More informationHths 2231 Laboratory 3 Genetics
Watch Movie: Cystic Fibrosis Answer the movie questions on the worksheet. Complete activities 1-5 Activity #1: Under Lab 3 Click on activity 1 Click on Tour of the Basics Do all 6 What is exercises Activity
More informationreview Genetics IN Medicine 13
January 2008 Vol. 10 No. 1 review Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives Sandra Darilek, MS, Patricia Ward, MS, Amber Pursley, MS,
More informationCLINICAL MEDICAL POLICY
Policy Name: Policy Number: Approved By: CLINICAL MEDICAL POLICY Chromosomal Microarray Analysis: Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphism (SNP) MP-012-MD-WV Medical Management
More informationInformation for you about Panorama s Microdeletion Screening BROUGHT TO YOU BY:
Information for you about Panorama s Microdeletion Screening BROUGHT TO YOU BY: Panorama TM is a Non-Invasive Prenatal Test (NIPT) that screens for Down syndrome and other genetic abnormalities caused
More informationMutations. New inherited traits, or mutations, may appear in a strain of plant or animal.
Genetic Mutations Mutations New inherited traits, or mutations, may appear in a strain of plant or animal. The first individual showing the new trait is called a mutant. 2 Types of Mutations Chromosomal
More informationIsolated Choroid Plexus Cyst
Isolated Choroid Plexus Cyst This guideline was updated in April 2015 by Dr Joana De Sousa, with input from members of the New Zealand Maternal Fetal Medicine Network. Background Midtrimester soft markers
More informationThe Mystery of Risk. Drugs, Alcohol, Pregnancy and the Vulnerable Child. Ira J. Chasnoff, MD
The Mystery of Risk Drugs, Alcohol, Pregnancy and the Vulnerable Child Ira J. Chasnoff, MD irachasnoff@gmail.com Attachment: Basic Concepts n Attachment is the interconnectedness between human beings.
More informationSyndromic X Linked Mental Retardation
Syndromic X Linked Mental Retardation Introduction : Dr. Yousef.A. Assaleh Dept. of Pediatric - faculty of medicine Zawia University Mental retardation is defined as incomplete or insufficient general
More informationNo mutations were identified.
Hereditary High Cholesterol Test ORDERING PHYSICIAN PRIMARY CONTACT SPECIMEN Report date: Aug 1, 2017 Dr. Jenny Jones Sample Medical Group 123 Main St. Sample, CA Kelly Peters Sample Medical Group 123
More information%(6/31) [DOI] /j.issn
750 2016 9 1 41 9 [ ] 2012 2 2015 5 31 20~37 21~27 31 G 4 1 26 23 3 11.54%(3/26) 4 / 21 6 19.35%(6/31) [ ] [ ] R714.53 [ ] A [ ] 0577-7402(2016)09-0750-08 [DOI] 10.11855/j.issn.0577-7402.2016.09.10 Application
More informationGenetics in Primary Care: An Update
Genetics in Primary Care: An Update September 11, 2018 Jagdeep S Walia, MBBS, FRCPC, FCCMG Head, Division of Medical Genetics, Director of Research, Department of Pediatrics, Queen s University Financial
More informationJULY 21, Genetics 101: SCN1A. Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology
JULY 21, 2018 Genetics 101: SCN1A Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology Disclosures: I have no financial interests or relationships to disclose. Objectives 1. Review genetic
More informationGenetics and Genetic Testing for Autism:
STAR Training 2/22/2018 Genetics and Genetic Testing for Autism: Demystifying the Journey to Find a Cause Alyssa (Ah leesa) Blesson, MGC, CGC Certified Genetic Counselor Center for Autism and Related Disorders
More informationCHAPTER IV RESULTS. The goal of this study was to identify the underlying genetic defect in patients with MR
CHAPTER IV RESULTS The goal of this study was to identify the underlying genetic defect in patients with MR and epilepsy. Mutation analysis from the syndromic patients were performed, from the non syndromic
More informationHow many disease-causing variants in a normal person? Matthew Hurles
How many disease-causing variants in a normal person? Matthew Hurles Summary What is in a genome? What is normal? Depends on age What is a disease-causing variant? Different classes of variation Final
More information22q11.2 DELETION SYNDROME. Anna Mª Cueto González Clinical Geneticist Programa de Medicina Molecular y Genética Hospital Vall d Hebrón (Barcelona)
22q11.2 DELETION SYNDROME Anna Mª Cueto González Clinical Geneticist Programa de Medicina Molecular y Genética Hospital Vall d Hebrón (Barcelona) Genomic disorders GENOMICS DISORDERS refers to those diseases
More informationChromosomes and Gene Expression. Exceptions to the Rule other than sex linked traits
Chromosomes and Gene Expression Exceptions to the Rule other than sex linked traits Chromosome Inactivation If girls have two X chromosomes, do they produce more proteins than boys with only one X chromosome???
More informationCase Report Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
Case Reports in Genetics Volume 2013, Article ID 785830, 4 pages http://dx.doi.org/10.1155/2013/785830 Case Report Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental
More informationPrior Authorization Review Panel MCO Policy Submission
Prior Authorization Review Panel MCO Policy Submission A separate copy of this form must accompany each policy submitted for review. Policies submitted without this form will not be considered for review.
More informationCurrent controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?
DOI: 10.1002/pd.4718 PRESENTATIONS FROM THE 2015 ISPD MEETING IN WASHINGTON, DC Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed
More informationDNA Basics. We are all made up of cells. Cells contain DNA, or instructions to tell our bodies how to work.
DNA Basics We are all made up of cells. Cells contain DNA, or instructions to tell our bodies how to work. DNA is packaged into structures called chromosomes. Each chromosome contains many genes and each
More informationDisclosures. Update on Medical Genetics for Family Practitioners. Objectives. Genetic Testing. Types of Genetic Tests. Dogma of Genetics 08/05/2018
Update on Medical Genetics for Family Practitioners Genetic Testing, Newborn Screening, and Direct to Consumer Testing Sandhya Parkash, MD, FRCPC, FCCMG Maritime Medical Genetics Service, IWK Health Centre
More informationChapter 1 : Genetics 101
Chapter 1 : Genetics 101 Understanding the underlying concepts of human genetics and the role of genes, behavior, and the environment will be important to appropriately collecting and applying genetic
More informationCentoXome FUTURE'S KNOWLEDGE APPLIED TODAY
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For some patients, the combination of symptoms does not allow
More information