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Extracardiac anomalies (omphalocele, duodenal atresia VACTERL,spina bifida ) Chromosomal abnormalities (trisomies, microdeletion) Increased first ...
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TRISOMY 21 = Down Syndrome. Only three trisomies are compatible with. post-natal survival. Trisomy 13. Trisomy 18. Trisomy 21. Trisomy 21 is the most common ...
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Prenatal Diagnosis of ... the results of noninvasive serum biochemical screening. ... that trisomies such as trisomy 21 and trisomy 18 can be detected in ...
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Trisomies gonosomales - 0,2% des avortements s verit . Triplo die - 15% des avortements. ... Screening et diagnostic pr natal cytog n tique ...
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Trisomy Screening. J. Christopher Glantz. Trisomies 21, 18, and 13. Incidence (live births) ... Syndrome. PAPP-A (MoM) 5% 42% Distribution of First Trimester ...
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Laboratory of Human Genetics and Reproductive Biology ... Detection of Chromosome 21 Trisomies (Down Syndrome) Normal Chr. 21. Triploid Chr. 21 ...
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splenic MZL. numerical abnormalities (mainly trisomies 3, 7, 18) nodal MZL ... splenic Marginal cell lymphoma (3) 46,XX,del(7)(q22q32) del(7q) control probe ...
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... to occur in mice, rats, hamsters, rabbits, macaques, marmosets, baboons and ... No-X males Y0. Autosomal trisomies. Down's (21) Edward's (18) Pateau's (13) ...
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First Trimester Screening for Trisomies 21 and 18. Wapner R., Thom E., Simpson J L ... Prenat Diagnosis 2003; ... Prenatal Diagnosis Subject: Same Author:
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... trisomies are embryonic lethals, but Ts 13, 18 and 21 survive in many cases. The most viable human trisomy is Ts21, Down syndrome. ...
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Down Syndrome. Trisomy 13- cleft palate, eye brain circulatory defects. Trisomy 18- death in months ... Turner Syndrome-X0- only viable monosomy in humans, ...
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By: Abby Foulk
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Clinical investigation should however be initiated after ... Steer Modifications. Nuchal first. USS guidance before , during and after. No bladder dissection ...
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Trisomy 21 or Down Syndrome. 47, XY, 21 or 47, XX, 21 Karyotype ... Trisomy 13. 47, XY, 13 or Karyotype. Patau syndrome 1/10,000 live births. ...
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Changes in Chromosome Number Chapter 3 Animation: How Cells Reproduce (chromosome structure and organization) Animation: Meiosis Animation: Mitosis Animation ...
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Heredity, Gene Regulation, and Development Mutation A. Overview
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Early Prenatal Screening in Primary Care BC College of Family Physicians 21st Annual Scientific Assembly Ken Seethram, MD, FRCSC, FACOG Pacific Centre for ...
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Muntjac (2N = 8) Indian. Muntjac (2N = 46) Muntjac karyotypes. Reeves. Muntjac (2N = 8) Indian. Muntjac (2N = 46) Which muntjac species has more genes? Indian. Reeves ...
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un brin d'ADN comportant des nucl otides modifi s, partir d'un brin ... le brin compl mentaire entre des hexam res de monobrin (brins compos s de six nucl otides al atoires) ...
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Chromosomal aberrationschanges in the chromosomes (mutations) Variations in the chromosome number. Aneuploidy. Addition or loss of one or more chromosomes
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A gene is active only on the Barr body chromosome-XIST ... Use x-over rates in progeny to plot relative position of genes on chromosomes- Linkage Map.
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Special thanks to the Children s Hospital of Eastern Ontario s Prenatal Genetics ... This presentation is for ... for primary care Case 1 ...
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Non-Invasive Prenatal Testing Developed by Dr. June Carroll, Shawna Morrison and Dr. Judith Allanson Special thanks to the Children s Hospital of Eastern Ontario ...
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KEY CONCEPT A combination of methods is used to study human genetics. Human genetics follows the patterns seen in other organisms. The basic principles of genetics ...
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Prenatal Diagnostic Ultrasound. in Application of Umbilical Cord. ??????? ??? ... Akinesia sequence. Trisomy 21. Body stalk anomalies. Long cord. Hyperactivity ...
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... alterations of the posterior fossa as (a)cystic dilatation of ... posterior fossa with big ... Posterior fossa 'banana sign' Cisterna magna ...
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Most common at live birth -- trisomy 21. Down syndrome -- 1 in 750 live births. Less common: trisomy 18 (1 in 10,000) trisomy 13 (1 in 20,000) ...
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... with three copies of chromosome 21, resulting in Down's syndrome (trisomy 21) ... Cri du Chat Syndrome ... antiphospholipid antibody syndrome the body ...
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GENETIC DISORDERS Neurofibromatosis (commonly abbreviated NF) is a genetically-inherited disease in which the nerve tissue grows tumors (i.e., neurofibromas) that ...
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We can test for certain genetic abnormalities by doing a Karyotype ... fertilization between one normal gamete & one gamete that contains an extra chromosome. ...
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Inheritance Patterns & Human Genetics Chapter 12
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... transmitted by genes or chromosomal aberrations, that may be heritable ... NONDISJUNCTION (Chromosomal numerical ... I. MORPHOLOGIC/ STRUCTURAL ...
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... partial monosomy for one region of the genome and partial trisomy for another region of the genome 22q11.2 deletion interstitial deletion of 3Mb removing ...
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basal ganglia (neurologic symptoms) Kayser-Fleischer green brown ring ... distended, friable, congested segment. perforation peritonitis ...
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Karyotype of a child with Down Syndrome: Patau syndrome (trisomy 13): serious eye, brain, circulatory defects as well as cleft palate and polydactyly ...
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Pregnancy Outcome Patterns for Selected Birth Defects in Texas Mary Ethen, MPH Amy Case, MAHS Texas Birth Defects Monitoring Division Features of the Texas Birth ...
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Examination of chromosomes under the microscope ... Conotruncal heart defects (e.g., tetralogy of Fallot, pulmonary atresia, absent pulmonary valve) ...
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Title: Slide 1 Author: amae Last modified by: Andres M e Created Date: 4/18/2006 12:31:55 PM Document presentation format: On-screen Show Company
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A gene is a location on DNA that codes for a TRAIT, such as ... Obesity, poor muscle tone and strength, speech delays, poor coordination, excessive sleeping ...
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D pistage ant natal de la trisomie 21 Donn es actuelles concernant la mesure de la clart nucale et l usage des marqueurs s riques du 2 me trimestre
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Anatomy & Physiology I Unit Five Objective One A. What Is a Chromosome?: A long, continuous strand of DNA, plus several types of associated proteins, and RNA.
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Human Genetics Basics Kate Garber Director of Education Department of Human Genetics kgarber@genetics.emory.edu Syndrome named after an old guy Gene name, which is ...
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Chromosome Alterations * * * * * * * * * * * * * * Types of Chromosome Chromosomes are placed into broad categories depending on the position of the centromere. ...
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MUTATIONS in NON-coding sequences defective transcription ... OSTEOGENESIS IMPERFECTA. ACHONDROPLASIA. FAMILIAL HYPERCHOLESTEROLEMIA ...
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HCG : M diane : 1,79 MoM. PAPP-A : M diane : 0,35 MoM. D pistage au 1er Trimestre. Tests ... La situation actuelle. (2002) Association des g n ticiens de langue ...
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Cytogenetic abnormality was shown by . Ford. in 1959. 20% abort spontaneously. 1 in 5000 to1 in 10000. pgmedicalworld.com. GENOTYPE: Monosomy: 45XO. Mosaicism: 45XO/46XX.
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Watch the 3 minute video segment
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chromosomal mutations Chromosomal mutations Changes in chromosome number Changes in chromosome structure Chromosome testing Karyotyping High resolution analysis
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Prenatal Screening Using Free DNA in Maternal Blood Jacob Canick, PhD Alpert Medical School of Brown University Women & Infants Hospital Providence, RI, USA
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initial evidence: inheritance of sex chromosomes determined sex ... as Y and X chromosomes diverged, deleterious mutations increased in Y ...
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Genetic Disorders Inherited in different ways Gene mutations Autosomal / Sex-linked Dominant / recessive/ codominant Chromosomal mutations Too many- trisomy
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Ag-NOR stain - Nucleolar Organizing Regions (active) Karyotyping cell preparation ... Giemsa stain. each chromosome characteristic light and dark bands. 400 ...
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Double Gold Standard Bias: effect of spontaneously resolving cases. d. c. V/Q Scan - b ... Specificity, d/(b d) biased __ Double gold standard compared with PA ...
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DNA what is it Pentose sugar (deoxyribose) Phosphate molecule Four nitrogenous bases Pyrimidines: cytosine and thymine Purines: adenine and guanine
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