Chromosomal Abnormalities
|
|
|
- Anastasia Stafford
- 7 years ago
- Views:
Transcription
1 Chromosomal Abnormalities George E Tiller, MD, PhD Regional Chief, Dept. Genetics Southern California Permanente Medical Group Los Angeles, CA Objectives of Lecture list several indications for karyotyping describe clinical features of common chromosomal anomalies contrast routine karyotyping with FISH and CGH explain the phenomena of genetic imprinting & UPD Chromosomal Disorders found in >7% human conceptuses responsible for >50% miscarriages (trisomy 16 > 45,XO > others) 1/200 liveborn with chromosomal disorder Types of Chromosomal Anomalies numerical changes of sets: triploidy, tetraploidy of individual: trisomy, monosomy mosaicism structural changes deletions duplications translocations inversions 1
2 Indications for Chromosomal Analysis birth and infancy suspicious phenotype ambiguous genitalia multiple congenital anomalies childhood mental retardation suspicious phenotype adolescence primary amenorrhea abnormal stature adulthood: several incidence: 1/750 Down Syndrome features: characteristic facial features, hypotonia, developmental delay, simian creases, brachydactyly, short stature, increased risk for CHD (>50%), duodenal obstruction, hypothyroidism 1 o defect: Trisomy 21 (>95% 47,XS +21) Trisomy 18 incidence: 1/3,000 features: IUGR, FTT, hypertonia, CHD, CL/P, malformed ears, micrognathia, overlapping digits, hernias, renal anomalies, severe developmental delay <10% survive 1 year 2
3 Trisomy 13 incidence: 1/5,000 features: IUGR, FTT, hypotonia, CHD, CL/P, apnea, seizures, malformed ears, polydactyly, microcephaly, microphthalmia, CNS defects, renal anomalies, cutis aplasia, severe developmental delay <10% survive 1 year Turner Syndrome incidence: 1/2,500 features: webbed neck, low hairline, infantile lymphedema, CHD (CoA), widely spaced nipples, cubitus valgus, ovarian dysgenesis 1 o defect: 45,X (50%); ringx or isox (25%); mosaic 25% (45,X/46,XX or XY) Rx: GH tx, hormone replacement tx Klinefelter Syndrome incidence: 1/800 (most common sex chromosome anomaly) features: tall, thin stature; mild learning d/o, scant facial/pubic hair, hypogonadism, gynecomastia, sterility 1 o defect: 47,XXY Rx: testosterone replacement tx 3
4 Fragile X Syndrome incidence: 1/4,000 males features: delayed motor development, large ears and long faces, severe speech delay, autism, loose joints, large testicles cytogenetics: fragile site at Xq27 molecular: >200 (CCG) n expansion in FMR1 1/3 carrier females mildly symptomatic Prader-Willi Syndrome incidence: 1/20,000 features: hypotonia, hypogonadism, small hands & feet, almond-shaped eyes, polyphagia, obesity, short stature, MR cytogenetics: deletion 15q11 by karyotype or FISH (70%); matupd (25%) molecular: abnormal DNA methylation pattern of genes at 15q11 Angelman Syndrome incidence: 1/20,000 features: microcephaly, broad mouth, large jaw, seizures, ataxia ( puppet-like gait), inappropriate laughter, autism cytogenetics: deletion 15q11 by karyotype or FISH (70%); patupd (7%) molecular: abnormal DNA methylation pattern of genes at 15q11; UBE3A mutation (10%) 4
5 Imprinting identical genes may be marked differently during germ cell development gene expression may be influenced by imprinting, leading to variable phenotypes examples: Prader-Willi sx, Angelman sx, familial paragangliomas, Beckwith-Wiedemann sx Williams Syndrome incidence: 1/7,500 features: short stature; developmental delay; cocktail party personality; stellate irides, long philtrum, full lips; hoarse voice; SVAS, PS; +/- hypercalcemia 1 o defect: contiguous gene syndrome (microdeletion on 7q) Contiguous Gene Syndrome abnormalities of >2 adjacent genes deletion, duplication, or uniparental disomy microdeletions detected by FISH examples: Prader-Willi, Angelman, Beckwith-Wiedemann, Williams, digeorge, Miller-Dieker lissencephaly, Smith-Magenis, Langer-Giedion sxs 5
6 CATCH 22 Syndrome includes: digeorge sx, Shprintzen sx, some isolated CHD incidence: 1/5,000 features: Cardiac defects (esp. TOF); Abnormal facies; Thymic hypoplasia; Cleft palate; Hypocalcemia 1 o defect: 22q11 microdeletion; underdevelopment 4th branchial arch and 3rd/4th pharyngeal pouches Cri du Chat Syndrome incidence: 1/20,000 features: SGA, hypotonia with weak, high-pitched cry, microcephaly, hypertelorism, epicanthal folds, downslanting palpebral fissures, small jaw, CHD 1 o defect: 5p- (terminal deletion of short arm of chromosome 5) Beckwith-Wiedemann Syndrome incidence: 1/15,000 inheritance: 85% sporadic; rare AD features: large for gestational age; hypoglycemia, macroglossia, ear pits/creases, organomegaly, omphalocele, umbilical hernia, Wilms tumor (5%) 1 o defect: gene dosage defect at 11p15 6
7 Comparative Genomic Hybridization (CGH) a molecular karyotype may detect deletions & insertions as small as 50Kb will not detect balanced translocations cost is coming down Cytogenetic References Down syndrome. Pediatrics 1072):442, 2001 Fragile X syndrome. Pediatrics 98(2):297, 1996 Turner syndrome. Pediatrics 111(3):692, 2003 Williams syndrome. Pediatrics 107(5):1192, 2001 all can be found online at Jones, KL. Smith s Recognizable Patterns of Human Malformation, 6th ed. New York: Elsevier, The bible of dysmorphology 7
Basic Human Genetics: Reproductive Health and Chromosome Abnormalities
Basic Human Genetics: Reproductive Health and Chromosome Abnormalities Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland Training Course in Sexual and
Each person normally has 23 pairs of chromosomes, or 46 in all. We inherit one chromosome per pair from our mother and one from our father.
AP Psychology 2.2 Behavioral Genetics Article Chromosomal Abnormalities About 1 in 150 babies is born with a chromosomal abnormality (1, 2). These are caused by errors in the number or structure of chromosomes.
Syndrome Review 1: Common Trisomies and Sex Chromosome Variations
Syndrome Review 1: Common Trisomies and Sex Chromosome Variations Cynthia M. Powell, M.D. Associate Professor of Pediatrics and Genetics The University of North Carolina at Chapel Hill National Birth Defects
CELL DIVISION. STAGES OF MITOTIC DIVISION (Diag. C1)
1 CELL DIVISION Cell division is the process by which cells replicate in order to replace cell loss, repair tissue damage and reproduce the organism. Two types of cell division are encountered in the Eukaryotic
Overview of Genetic Testing and Screening
Integrating Genetics into Your Practice Webinar Series Overview of Genetic Testing and Screening Genetic testing is an important tool in the screening and diagnosis of many conditions. New technology is
*Please consult the online schedule for this course for the definitive date and time for this lecture.
CHROMOSOMES AND DISEASE Date: September 29, 2005 * Time: 8:00 am- 8:50 am * Room: G-202 Biomolecular Building Lecturer: Jim Evans 4200A Biomolecular Building jpevans@med.unc.edu Office Hours: by appointment
CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA
CHROMOSOMES Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA Cytogenetics is the study of chromosomes and their structure, inheritance, and abnormalities. Chromosome abnormalities occur in approximately:
DISABILITY-RELATED DEFINITIONS
DISABILITY-RELATED DEFINITIONS 1. The Americans with Disabilities Act (ADA) of 1990 is a civil rights law, which makes it unlawful to discriminate on the basis of disability. It covers employment in the
What is 22q11.2 Deletion Syndrome?
What is 22q11.2 Deletion Syndrome? 22q11.2 deletion syndrome is a genetic condition that affects learning, health, and physical traits. It occurs in males and females of all racial and ethnic backgrounds.
RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI
RECURRENT PREGNANCY LOSS DR.RAJALAKSHMI SRINIVASAN SPECIALIST GYNECOLOGIST ZULEKHA HOSPITAL DUBAI RECURRENT PREGNANCY LOSS -RM Clinically recognized consecutive or non consecutive pregnancy losses before
23. TERATOGENS AND THEIR EFFECTS
23. TERATOGENS AND THEIR EFFECTS Wendy Chung, M.D. Ph.D. Telephone: 851-5313 e-mail: wkc15@columbia.edu SUMMARY A congenital malformation is an anatomical or structural abnormality present at birth. Congenital
Genetic Mutations. Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes.
Genetic Mutations Indicator 4.8: Compare the consequences of mutations in body cells with those in gametes. Agenda Warm UP: What is a mutation? Body cell? Gamete? Notes on Mutations Karyotype Web Activity
Influence of Sex on Genetics. Chapter Six
Influence of Sex on Genetics Chapter Six Humans 23 Autosomes Chromosomal abnormalities very severe Often fatal All have at least one X Deletion of X chromosome is fatal Males = heterogametic sex XY Females
1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects
1. PRENATAL DIAGNOSIS OF CHROMOSOMAL DISORDERS - molecular aspects Ana Stavljenić-Rukavina Zagreb University School of Medicine, Croatia The standard measures for population health outcomes is based on
Chromosomes, Mapping, and the Meiosis Inheritance Connection
Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory
The Newborn With a Congenital Disorder. Chapter 14. Copyright 2008 Wolters Kluwer Health Lippincott Williams & Wilkins
The Newborn With a Congenital Disorder Chapter 14 Congenital Anomalies or Malformations May be caused by genetic or environmental factors Approximately 2% to 3% of all infants born have a major malformation
Chromosome Syndromes associated with Congenital Heart Defects
National Birth Defects Prevention Network (NBPDN)/NBDPS Annual Meeting Feb. 26-29. 2012 Arlington, VA Chromosome Syndromes associated with Congenital Heart Defects Angela E. Lin, MD, FAAP, FACMG Associate
DIAGNOSIS, GENETICS AND PRENATAL DIAGNOSIS IN CHARGE Meg Hefner, M.S. Genetic Counselor and Assistant Professor of Pediatrics, Division of Medical Genetics, St. Louis University School of Medicine, 1465
Fact Sheet 14 EPIGENETICS
This fact sheet describes epigenetics which refers to factors that can influence the way our genes are expressed in the cells of our body. In summary Epigenetics is a phenomenon that affects the way cells
Objectives Role of Medical Genetics in Hearing Loss Evaluation. 5 y.o. boy with severe SNHL
Objectives Role of Medical Genetics in Hearing Loss Evaluation Millan Patel, MD UBC Dept. of Medical Genetics October 22, 2010 Case presentation to illustrate importance of defining syndromic hearing loss
Sex for the purposes of this class refers to 4 components
Sex for the purposes of this class refers to 4 components Gonadal sex Gonads or where gametes are produced by meiosis Somatic sex Somatic cells are cells that undergo mitosis. They can be divided into
The ultrasound detection of chromosomal anomalies 1
The ultrasound detection of chromosomal anomalies 1 Werther Adrian Clavelli, MD 2, Silvia Susana Romaris de Clavelli, MD 2, Philippe Jeanty, MD, PhD 3 Adapted from The Ultrasound Detection of Chromosomal
Heredity - Patterns of Inheritance
Heredity - Patterns of Inheritance Genes and Alleles A. Genes 1. A sequence of nucleotides that codes for a special functional product a. Transfer RNA b. Enzyme c. Structural protein d. Pigments 2. Genes
UNIT 13 (OPTION) Genetic Abnormalities
Unit 13 Genetic Abnormailities 1 UNIT 13 (OPTION) Genetic Abnormalities Originally developed by: Hildur Helgedottir RN, MN Revised (2000) by: Marlene Reimer RN, PhD, CCN (C) Associate Professor Faculty
REI Pearls: Pitfalls of Genetic Testing in Miscarriage
The Skinny: Genetic testing of miscarriage tissue is controversial and some people question if testing is helpful or not. This summary will: 1) outline the arguments for and against genetic testing; 2)
Genetic Counseling: A Profession in the Making. Jessica Hooks, MS Genetic Counselor University of South Carolina
Genetic Counseling: A Profession in the Making Jessica Hooks, MS Genetic Counselor University of South Carolina Definition the process of helping people understand and adapt to the medical, psychological
Submitting Data to ISCA and NCBI
Submitting Data to ISCA and NCBI created by Tim Hefferon last updated August 28, 2012 Dear ISCA Submitter, This brief guide is intended to make the submission of your copy number variation and clinical
Trisomies 13 and 18. -Maternal age. (Patau and Edward s syndrome)
Trisomies 13 and 18 (Patau and Edward s syndrome) Trisomy 21 (Down syndrome) is the commonest chromosomal disorder at birth, and has been considered in detail in previous annual reports 23. Other relatively
Prior Authorization Form
Prior Authorization Form Growth Hormone This fax machine is located in a secure location as required by HIPAA regulations. Complete/review information, sign and date. Fax signed forms to CVS/Caremark at
Robertsonian Translocations
Robertsonian Translocations rarechromo.org Robertsonian translocations A Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together.
The Developing Person Through the Life Span 8e by Kathleen Stassen Berger
The Developing Person Through the Life Span 8e by Kathleen Stassen Berger Chapter 3 Heredity and Environment PowerPoint Slides developed by Martin Wolfger and Michael James Ivy Tech Community College-Bloomington
Invasive Prenatal (Fetal) Diagnostic Testing
MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Invasive Prenatal (Fetal) Diagnostic Testing Number 12.04.116
a guide to understanding pierre robin sequence
a guide to understanding pierre robin sequence a publication of children s craniofacial association a guide to understanding pierre robin sequence this parent s guide to Pierre Robin Sequence is designed
Genetic Mutations Cause Many Birth Defects:
Genetic Mutations Cause Many Birth Defects: What We Learned from the FORGE Canada Project Jan M. Friedman, MD, PhD University it of British Columbia Vancouver, Canada I have no conflicts of interest related
Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida
Jennifer A. Defant, M.S., C.G.C. Certified Genetic Counselor Division of Genetics and Metabolism University of Florida 60% of childhood hearing loss is genetic Syndromic Nonsyndromic 40% of childhood hearing
Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions Using Cell-Free Fetal DNA
MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES CODING APPENDIX HISTORY Noninvasive Prenatal Screening for Fetal Aneuploidies and Microdeletions
CAGC Certification Logbook of Clinical Experience INSTRUCTIONS
CAGC Certification Logbook of Clinical Experience INSTRUCTIONS The purpose of the logbook is to show that the applicant has been significantly involved in the evaluation and counselling of patients seeking
a guide to understanding moebius syndrome a publication of children s craniofacial association
a guide to understanding moebius syndrome a publication of children s craniofacial association a guide to understanding moebius syndrome this parent s guide to Moebius syndrome is designed to answer questions
A test your patients can trust.
A test your patients can trust. A simple, safe, and accurate non-invasive prenatal test for early risk assessment of Down syndrome and other conditions. informaseq Prenatal Test Simple, safe, and accurate
CSP. Genetic testing in children with developmental delay. Common Sense Pathology. CONTENTS Who/when to test What tests to order Case studies
CSP Common Sense Pathology FEBRUARY 2011 A REGULAR CASE-BASED SERIES ON PRACTICAL PATHOLOGY FOR GPs CONTENTS Who/when to test What tests to order Case studies Genetic testing in children with developmental
What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives
What Is Genetic Counseling? Helping individuals and families understand how genetics affects their health and lives What does the career involve? Explore family histories to identify risks Reducing risks
Umm AL Qura University MUTATIONS. Dr Neda M Bogari
Umm AL Qura University MUTATIONS Dr Neda M Bogari CONTACTS www.bogari.net http://web.me.com/bogari/bogari.net/ From DNA to Mutations MUTATION Definition: Permanent change in nucleotide sequence. It can
Mendelian inheritance and the
Mendelian inheritance and the most common genetic diseases Cornelia Schubert, MD, University of Goettingen, Dept. Human Genetics EUPRIM-Net course Genetics, Immunology and Breeding Mangement German Primate
ACMG Practice Guideline
June 2007 Vol. 9 No. 6 ACMG Practice Guideline Indications for genetic referral: a guide for healthcare providers Beth A. Pletcher, MD 1, Helga V. Toriello, PhD 2, Sarah J. Noblin, MS, CGC 3, Laurie H.
The following chapter is called "Preimplantation Genetic Diagnosis (PGD)".
Slide 1 Welcome to chapter 9. The following chapter is called "Preimplantation Genetic Diagnosis (PGD)". The author is Dr. Maria Lalioti. Slide 2 The learning objectives of this chapter are: To learn the
Genetic Bases of Hearing Loss: Future Treatment Implications
Genetic Bases of Hearing Loss: Future Treatment Implications Luis F. Escobar, MD Medical Director Medical Genetics & Neurodevelopmental Pediatrics of Indiana Peyton Manning Children s Hospital St. Vincent
Muscular Dystrophy. By. Tina Strauss
Muscular Dystrophy By. Tina Strauss Story Outline for Presentation on Muscular Dystrophy What is Muscular Dystrophy? Signs & Symptoms Types When to seek medical attention? Screening and Diagnosis Treatment
Trisomy 13 (also called Patau s syndrome or T13)
Screening Programmes Fetal Anomaly Trisomy 13 (also called Patau s syndrome or T13) Information for parents Publication date: April 2012 Review date: April 2013 Version 2 117 Information sheet to help
Number 12.04.59 Effective Date August 1, 2016 Revision Date(s) 07/12/16; 10/13/15; 12/08/14; 12/09/13; 02/14/12 Replaces 2.04.59
MEDICAL POLICY POLICY RELATED POLICIES POLICY GUIDELINES CODING DESCRIPTION SCOPE BENEFIT APPLICATION RATIONALE REFERENCES APPENDIX HISTORY Genetic Testing, Including Chromosomal Microarray (CMA) Analysis
Patient Information. Ordering Physician Information. Indication for Testing (REQUIRED)
EPILEPSY EXOME CLINICAL CHECKLIST REQUIRED Please check all clinical features that apply, and use the additional space provided at the bottom of the form if needed Patient Information Name: Last First
The correct answer is c A. Answer a is incorrect. The white-eye gene must be recessive since heterozygous females have red eyes.
1. Why is the white-eye phenotype always observed in males carrying the white-eye allele? a. Because the trait is dominant b. Because the trait is recessive c. Because the allele is located on the X chromosome
TERATOGENESIS ONTOGENESIS
TERATOGENESIS ONTOGENESIS Inborn developmental defects Occured during prenatal development Are present by delivery At about 3-5 % newborns are affected. Inborn developmental defects 1. CHROMOSOMAL ABERRATIONS
Developmental Disorders
Developmental Disorders General Principles Causes: Genetic Environmental (Maternal, Physical, Chemical) Mechanisms (Retinoic Acid) General Principles Teratology Study of Monsters Teratogen agent that produces
Prader-Willi Syndrome
U.S.A. Prader-Willi Syndrome MEDICAL ALERT: A Diagnosis and Reference Guide for Physicians and Other Health Professionals Prader-Willi Syndrome Basic Facts 1. PRADER-WILLI SYNDROME (PWS) is an uncommon
Genetics in Paediatrics. Diagnostics Aetiology Treatment Prognosis Prediktion Advise Research
Genetics in Paediatrics Diagnostics Aetiology Treatment Prognosis Prediktion Advise Research Genetic nomenclature,, abbreviations.. Mendels first law: Random transmittance to off-spring of the two chromosomes
Genetic Aspects of Mental Retardation and Developmental Disabilities
Prepared by: Chahira Kozma, MD Associate Professor of Pediatrics Medical Director/DCHRP Kozmac@georgetown.edu cck2@gunet.georgetown.edu Genetic Aspects of Mental Retardation and Developmental Disabilities
Policy Product Variations Description/Background Rationale Definitions Benefit Variations Disclaimer Coding Information References Policy History
Original Issue Date (Created): 4/1/2014 Most Recent Review Date (Revised): 11/24/2015 Effective Date: 2/1/2016 Policy Product Variations Description/Background Rationale Definitions Benefit Variations
National Down Syndrome Society
National Down Syndrome Society The national advocate for the value, acceptance and inclusion of people with Down syndrome What is Down Syndrome? Down syndrome is the most commonly occurring chromosomal
Chapter 8: Variation in Chromosome Structure and Number
Chapter 8: Variation in Chromosome Structure and Number Student Learning Objectives Upon completion of this chapter you should be able to: 1. Know the principles and terminology associated with variations
Wissenschaftliche Highlights der GSF 2007
H Forschungszentrum für Umwelt und Gesundheit GmbH in der Helmholtzgemeinschaft Wissenschaftlich-Technische Abteilung Wissenschaftliche Highlights der GSF 2007 Abfrage Oktober 2007 Institut / Selbst. Abteilung
Array Comparative Genomic Hybridisation (CGH)
Array Comparative Genomic Hybridisation (CGH) Exceptional healthcare, personally delivered What is array CGH? Array CGH is a new test that is now offered to all patients referred with learning disability
Fluorescence in situ hybridisation (FISH)
Fluorescence in situ hybridisation (FISH) rarechromo.org Fluorescence in situ hybridization (FISH) Chromosomes Chromosomes are structures that contain the genetic information (DNA) that tells the body
Supporting Information
Supporting Information Yin et al. 10.1073/pnas.1518151112 Fig. S1. Characteristic Z scores of a section of DNA encompassing a deletion in sample 14,945 at (A) varying concentrations of abnormal DNA at
MEDICAL GENETICS GENERAL OBJECTIVE SPECIFIC OBJECTIVES
SUBJECT MEDICAL GENETICS CREDITS Total: 4.5 Theory 2.5 Practical 2 GENERAL OBJECTIVE To provide students with terminology and knowledge from the field of human genetics that will enable them to understand
G. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics
G. Shashidhar Pai, MD MUSC Children s Hospital Department of Pediatrics Division of Genetics One of every 500 newborns has bilateral permanent sensorineural hearing loss 40 db which makes it the most common
Congenital Anomalies In Diamond Blackfan Anemia (DBA)
Congenital Anomalies In Diamond Blackfan Anemia (DBA) CS217857 National Center on Birth Defects and Developmental Disabilities Division of Blood Disorders Congenital Anomalies In Diamond Blackfan Anemia
LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES. Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD
LEUKODYSTROPHY GENETICS AND REPRODUCTIVE OPTIONS FOR AFFECTED FAMILIES Leila Jamal, ScM Kennedy Krieger Institute, Baltimore MD 2 Outline Genetics 101: Basic Concepts and Myth Busting Inheritance Patterns
Genetics Review for USMLE (Part 2)
Single Gene Disorders Genetics Review for USMLE (Part 2) Some Definitions Alleles variants of a given DNA sequence at a particular location (locus) in the genome. Often used more narrowly to describe alternative
4 SEX CHROMOSOMES AND SEX DETERMINATION
4 SEX CHROMOSOMES AND SEX DETERMINATION 4.1 Sex chromosomes and Sex Determination Sex- chromosomes. If present, sex chromosomes may not have the same size, shape, or genetic potential. In humans, females
Human Blood Types: Codominance and Multiple Alleles. Codominance: both alleles in the heterozygous genotype express themselves fully
Human Blood Types: Codominance and Multiple Alleles Codominance: both alleles in the heterozygous genotype express themselves fully Multiple alleles: three or more alleles for a trait are found in the
Lecture 3: Mutations
Lecture 3: Mutations Recall that the flow of information within a cell involves the transcription of DNA to mrna and the translation of mrna to protein. Recall also, that the flow of information between
Dysmorphology. Samia Temtamy* & Mona Aglan** *Professor of Human Genetics **Professor of Clinical Genetics. National Research Centre, Cairo, Egypt
Basic Concepts in Dysmorphology Samia Temtamy* & Mona Aglan** *Professor of Human Genetics **Professor of Clinical Genetics Human Genetics & Genome Research Division National Research Centre, Cairo, Egypt
Thank you for making a reproductive genetic counseling appointment at the Mount Sinai Medical Center.
Division of Medical Genetics Department of Genetics and Genomic Sciences Mailing address: One Gustave L. Levy Place, Box 1497 New York, NY 10029-6574 Patient Address: 1428 Madison Avenue (at 99th Street)
«How can patient organisations trigger a EU funded rare disease project»
The European Prader Willi syndrome research project «How can patient organisations trigger a EU funded rare disease project» At first : a daily challenging rare disease A rare disease : Prader- Willi syndrome
21 WEEKS FETUS WITH TRISOMY 18 (EDWARD SYNDROME), BONE MALFORMATIONS HIGHLIGHTED
THE PUBLISHING HOUSE MEDICINE OF THE ROMANIAN ACADEMY Research article 21 WEEKS FETUS WITH TRISOMY 18 (EDWARD SYNDROME), BONE MALFORMATIONS HIGHLIGHTED BOGDAN BOTEZATU 1 and BOGDAN MARINESCU 1 1 Obstetrics
your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing.
your questions answered the reassurance of knowing A guide for parents-to-be on noninvasive prenatal testing. Accurate answers about your baby s health simply, safely, sooner. What is the verifi Prenatal
Making the Connections District 75 NYCDOE
Medical Syndromes and Their Effect on Learning Making the Connections District 75 NYCDOE Cerebral Palsy The most frequent medical condition in 12:1:4 classes Associated with other disabilities including
Mutation and its consequences. Notes at: tcd.ie/biology_teaching_centre/local/ junior-freshman/ by1101local
Lecture 7 Mutation and its consequences CAMPBELL BIOLOGY Notes at: tcd.ie/biology_teaching_centre/local/ junior-freshman/ by1101local Natural variants and mutants 1. Genetic analysis would not be possible
The Patterns and Public Health Impact of Heart Defects in Texas Pediatric Cardiac Care Conference VI Dell Children s Medical Center, Feb.
The Patterns and Public Health Impact of Heart Defects in Texas Pediatric Cardiac Care Conference VI Dell Children s Medical Center, Feb. 7-8, 2013 Mark Canfield, Ph.D. Manager, Birth Defects Epidemiology
Special Report: acgh for the Genetic Evaluation of Patients with Developmental Delay/ Mental Retardation or Autism Spectrum Disorder
Technology Evaluation Center Special Report: acgh for the Genetic Evaluation of Patients with Developmental Delay/ Mental Retardation or Autism Spectrum Disorder Assessment Program Volume 23, No. 10 April
Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome.
Chromosomes, Karyotyping, and Abnormalities (Learning Objectives) Learn the components and parts of a metaphase chromosome. Define the terms karyotype, autosomal and sex chromosomes. Explain how many of
Chromosomal Microarray Analysis (CMA)
Chromosomal Microarray Analysis (CMA) Medical Genetics Laboratories Department of Molecular and Human Genetics Baylor College of Medicine Table of Contents Overview of CMA Examples of Common Findings Examples
4/4/14. Terms and definitions. Clinical Genetics is increasingly relevant for the adult population
Medical Genetics is the field of medicine that deals with genetically influenced biologic variation relevant to human health and disease. Clinical Genetics is increasingly relevant for the adult population
A test your patients can trust. A company you know and trust.
A test your patients can trust. A company you know and trust. informaseq Prenatal Test an advanced, non-invasive, prenatal screening for T21, T18, and T13 chromosomal aneuploidies using next generation
Speech Pathology Funding Information for Clients
Speech Pathology Funding Information for Clients www.communicatespeech.com.au Private Health Cover - All Ages Children and Adults Speech Pathology Assessment and Therapy sessions can be claimed through
Gene mutation and molecular medicine Chapter 15
Gene mutation and molecular medicine Chapter 15 Lecture Objectives What Are Mutations? How Are DNA Molecules and Mutations Analyzed? How Do Defective Proteins Lead to Diseases? What DNA Changes Lead to
MASTER THE CODE AN INTRODUCTION TO ICD-10 CODING FOR THE EARLY INTERVENTION POPULATION
MASTER THE CODE AN INTRODUCTION TO ICD-10 CODING FOR THE EARLY INTERVENTION POPULATION OCTOBER 23, 2015 KELLY WALSH-HILL, PT GENERAL EQUIVALENCE MAPPINGS (GEMS) ü Convert ICD-9 to ICD-10 codes (Backward
DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES
DIAGNOSING CHILDHOOD MUSCULAR DYSTROPHIES Extracts from a review article by KN North and KJ Jones: Recent advances in diagnosis of the childhood muscular dystrophies Journal of Paediatrics and Child Health
Causes of Birth Defects
Causes of Birth Defects Some medical / genetic terms: congenital defects: visible defects present at birth (due to any cause (genetic, developmental error ). syndrome: the symptoms that characterize any
The genetic screening of preimplantation embryos by comparative genomic hybridisation
Vol. 11, Suppl. 3 51 The genetic screening of preimplantation embryos by comparative genomic hybridisation Maria V Traversa 1, James Marshall, Steven McArthur, Don Leigh Genea, Sydney, Australia Received:
Gene and Chromosome Mutation Worksheet (reference pgs. 239-240 in Modern Biology textbook)
Name Date Per Look at the diagrams, then answer the questions. Gene Mutations affect a single gene by changing its base sequence, resulting in an incorrect, or nonfunctional, protein being made. (a) A
FastTest. You ve read the book... ... now test yourself
FastTest You ve read the book...... now test yourself To ensure you have learned the key points that will improve your patient care, read the authors questions below. Please refer back to relevant sections
Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2
August 2012 content 8 Preimplantation genetic diagnosis new method of screening of 24 chromosomes with the Array CGH method...2 Maintaining fertility new opportunities in GENNET...3 Hysteroscopy without
Hypoglycemia: Pediatric Board Review. Kimberly Fuld Pediatric Endocrine Fellow Stanford University
Hypoglycemia: Pediatric Board Review Kimberly Fuld Pediatric Endocrine Fellow Stanford University Definition Hypoglycemia is defined as serum glucose less than 50 mg/dl in older children and neonates Some
Pervasive Developmental Disorders: Understanding the Spectrum and Long Term Prognosis
Pervasive Developmental Disorders: Understanding the Spectrum and Long Term Prognosis ACLI Medical Section Annual Meeting 2010 Nhung T. Tran, MD, FAAP UTHSCSA Developmental-Behavioral Pediatrics Objectives
The Evaluation of a Child with Developmental Delay
The Evaluation of a Child with Developmental Delay Desiree V. Rodgers, M.D., M.P.H., F.A.A.P. Behavioral and Developmental Pediatrician Diagnostic Center Central California Developmental Spheres Gross
Emanuel syndrome. rarechromo.org
Emanuel syndrome rarechromo.org Your child will bring you joy and pain, just as all children do. Rejoice in the small achievements. Most of what I have found out about Emanuel syndrome has been from my
Cytogenetic and Molecular Diagnosis in Gestational Disorders
Cytogenetic and Molecular Diagnosis in Gestational Disorders Katherine Geiersbach, M.D. Assistant Professor, Department of Pathology University of Utah School of Medicine Medical Director, Cytogenetics
22q Deletion Velocardiofacial At a Glance
22q Deletion Velocardiofacial At a Glance 22q Deletion Velocardiofacial syndrome is a genetic condition caused by a very tiny missing piece on chromosome 22. This condition is highly variable in its severity
Optional Tests Offered Before and During Pregnancy
Plano Women s Healthcare Optional Tests Offered Before and During Pregnancy Alpha-Fetoprotein Test (AFP) and Quad Screen These are screening tests that can assess your baby s risk of having such birth