PPT-Chromosomal Anomalies

Detectable using a karyotype or FISH Common at conception 60 of first trimester spontaneous abortions are chromosomal anomalies About 1200 births all types Maternal Age especially in Downs. DR VIDYALEKSHMY R. DGO, DNB,MRCOG. CONGENITAL ANOMALIES. Real trauma to the family. Diagnosed usually after 20 Weeks.. 20 Weeks is the upper limit for legal MTP in India.. TAS. Done between 18-23 Weeks. Abnormalities in Chromosomal Number. Abnormalities in Chromosomal Structure:. Rearrangements. Fragile Sites. Define:. nondisjunction. polyploidy. aneupoidy. trisomy. monosomy. Abnormalities in chromosomal number. When things don’t fit. 1. Definition. If one statement says (or entails) that something is the case, while another says (or entails) that this is not the case, then the statements are . inconsistent. Essential 4 - Anomalies v2.0, August 31, 2012. Who’s Supposed to Be Here. Individuals . a. ssigned to. CALPADS maintenance. Supervisor of staff. assigned to CALPADS. 2. Essential 4 - Anomalies v2.0, August 31, 2012. Gabr. Objectives. By the end of this lecture, the student should be able to:. 1- Define birth defects. 2- List the causes of birth defects. 3- Define congenital anomaly and the difference . betw. . . SOFT . TISSUES. INTRODUCTION . Malformation or defect resulting from disturbance of growth and development are known as . developmental anomalies . 12.1 Chromosomal Inheritance . 1. Genes are located on chromosomes; this is called the . chromosome theory of inheritance. .. 12.1 Chromosomal Inheritance. Chromosomes can be categorized as two types:. HOSA – Future Health Professionals. Critical Assessment. The initial assessment completed on a newborn must be thorough. Often problems are identified that require immediate attention including possible surgical intervention. What if it’s NOT just the number?. Gene Mutations. Damaged Chromosomes . –. sometimes a portion of a gene or chromosome is lost or damaged during meiosis. Gene mutation. – a mutation that affects the gene. Prokaryotic cell. Plasmid (ring of DNA. ). 50 x Smaller 0.2-2μm. 50 x Bigger 10-100μm. And small rings of DNA called plasmids. Inside a nucleus. Main differences. Prokaryotes:. SIZE – 50 x smaller than eukaryotes. Prajanti. Sintaningrum ( RUM ). Pembimbing. d. r. Indri . Lakhsmi. . Putri. . Sp.BP. -RE (KKF). 1. Pendahuluan. Vascular anomalies : . defek. . atau. . kelainan. . dari. . pembuluh. . darah. ( . Grant No: 2010 22 04 No: 2011 22 01www.europlanproject.eu PRIMARY PREVENTION OF CONGENITAL ANOMALIES Congenital Anomalies)/EUROPLAN Recommendations on policies to be cocongenital anomalies in Natio congenital abnormalities, congenital malformations or birth defects.. Congenital means acquired in the womb.. They can be defined as . structural or functional anomalies (for example, metabolic disorders) that occur during intrauterine life and can be identified prenatally. Asmaa A. Almukhtar .PHD . Lecturer . Medical Genetic Department. ICCMGR. 2023. Introduction to Chromosomal Analysis. Reading &Writing a Chromosomal Analysis Report. How to write the chromosomal analysis report?.