The PowerPoint PPT presentation: Chromosomal abnormalities is the property of its rightful owner. Do you have PowerPoint slides to share? If so, share your PPT presentation slides online with PowerShow.com. It's FREE Common Chromosomal Abnormalities Anthony Liu, M.D. Wolf Hirschhorn syndrome Hypertelorism, frontal bossing; microcephaly, dolichocephaly, epicanthic folds, cleft - A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 43e806-NmIx
Chromosomal Mutations 185972 PPT. Presentation Summary : X chromosomal DNA—from mother to sons and daughters. Maternal line inheritance. Y chromosomal DNA—from father to son. Paternal line inheritance Chromosomal Abnormalities. Trisomies & nondisjunction Deletions, duplications, inversions, translocations. Nondisjunction Failure of chromosomes to separate normally during cell division- often occurs during the production of gametes Resulting in a trisomy 2n+1=47. Chromosomal Problems Karyotype Analysis Chromosome staining & structure Chromosomal abnormalities in humans A. Chromosome Staining & Structure Metaphase chromosome spread Staining techniques G-banding R-banding Q-banding A. Chromosome Staining & Structure Centromere Position Metacentric Submetacentric Acrocentric; P & q arms Telocentric Centromere & telomere structures B. Chromosomal Abnormalities Euploidy vs.
.0 Photo Slide 1 Slide 2 Slide 3 Slide 4 Slide 5 Slide 6 Slide 7 Slide 8 Karyotyping Karyotype Preparing a karyotype Slide 12 Slide 13 Slide 14 The analysis involves comparing chromosomes. What are chromosomes? Humans. have 23 . pairs (2n=46) of chromosomes, with one chromosome from each parent. The chromosomes are coiled up DNA. Under normal conditions all of the chromosomes are inherited intact and in pairs. This is a normal karyotype of human chromosomes. A karyotype is a picture of chromosomes lined up to look at and compare Affects the sex chromosomes (pair #23) Most Sex Linked Traits affect the . X chromosome. Males are more affected by sex-linked traits because they . only have one X chromosome. Females are often carriers because they have two X chromosomes. Female Sex Chromosomes. X. X (carrier) Male Sex Chromosomes. X. Y (affected) She has an extra X, so she. The first genetic abnormality to be associated with a human cancer. The result of a balanced translocation between chromosomes 9 and 22. Derivative chromosome 22 is significantly smaller. Ph chromosome is present in . hematopoietic cells . from patients with CML. Therefore, the Ph chromosome is acquired and . NOT. inherited through the germline chromosomes, karyotyping for prenatal and postnatal diagnoses, including the sources of cells used. • Explain the differences between the three prenatal diagnosis techniques. • Learn the terms used to describe the abnormalities in chromosomal numbers: polyploidy, aneuploidy: trisomy and monosomy, and mosiacism and their causing mechanisms
Sex determination begins at fertilization Humans have 46 chromosomes -22 pairs of autosomes - 2 sex chromosomes In general: females are - 46, XX males are - 46, XY In mammals, the presence of a Y chromosome determines the male phenotype If your treatment plan involves screening your embryos for chromosomal abnormalities please expect results in approximately 2 weeks from the day of embryo biopsy. Introduction to In-Vitro Fertilization (IVF) Cycl Example disorders: Tay-Sachs disease, Sickle Cell Figure 12-20 Chromosomal Mutations Nondisjunction Usually occurs during meiosis and can cause gametes to lack a chromosome or have an extra chromosome. Example: An egg may have 22 or 24 chromosomes. If a zygote has only 45 chromosomes then one pair has only one chromosome (monosomy) Genome = 46 chromosomes . Genome = approx. 3 billion base pairs . One base pair is 0.00000000034 meters. To insert this slide into your presentation Save this template as a presentation (.ppt file) on your computer. Ope
Key Terms Genetic disorder Karyotype pedigree Causes of Genetic Disorders Genetic disorder - abnormal condition that a person inherits through genes or chromosomes Some are caused by mutations in the DNA of genes Others are caused by changes in the overall structure or number of chromosomes Cystic Fibrosis Body produces abnormally thick mucus. . Producing mechanism consists in two chromosomes tearing in a point for each other, followed by terminal fragments loss and the joining of the both chromosomes that has centromeres. Non-balanced chromosomal abnormalities The failure of chromosomes to separate properly during gamete formation can result in genetic disorders. The term used to describe this condition is a double negative and may be confusing to students. Remind them that the normal event is for the chromosomes to separate or disjoin so disjunction is normal In this presentation, we will be looking into the field of cytogenetics, the study of genetics dealing with chromosomes and their genetic implications. In particular, we will be exploring karyotypes. Karyotypes are commonly used to investigate chromosomal number and banding, and are particularly helpful in looking for chromosomal abnormalities Chromosomal Disorders Amniocentesis Single Chromosome Disorders Deletion Genetic material is missing 2. Duplication Genetic material is present twice 3. An Example of Trisomy PowerPoint Presentation Edward's Syndrome Patau's Trisomy Syndrome Klinefelter Syndrome Monosomy Turners Syndrome Cri-Du-Chat Syndrome.
Search for: chromosomal disorders ppt. 21/12/2020 Leave a comment Leave a commen Title: PowerPoint Presentation Author: IT Department Created Date: 7/18/2007 9:22:34 PM Document presentation format: On-screen Show (4:3) Compan Pregnancies with congenital malformation, chromosomal abnormality or fetal infection were excluded. Markers of placental aging (telomerase activity, telomere length) and gene expression of apoptosis (Caspase 3 (CASP3), Caspase 9 (CASP9) and BCL2-associated X protein (BAX)) and senescence (p53, cyclin-dependent kinase inhibitor protein 21 (p21. Times Arial Times New Roman TimesNewRomanPS Blank Presentation Slide 1 Human genetics follows the patterns seen in other organisms. Females can carry sex-linked genetic disorders. A pedigree is a chart for tracing genes in a family. Slide 5 Several methods help map human chromosomes. Slide chromosomal abnormality, manifestations that are an inherent component of the anomaly should not be coded separately. •Additional codes should be assigned for manifestations that are not an inherent component. 2 ©2020 MVP Health Care PowerPoint Presentation Author
Gross abnormalities - severe damage to the chromosomes. Karyotype Chromosomes Humans have 46 chromosomes or 23 pairs. One set (1 of each pair) comes from your mother. One set (1 of each pair) comes from your father. Chomosomes 1-22 are called autosomes, and one pair of sex chromosomes. Sex Chromosomes Females XX, and Male XY congenital abnormalities of face.ppt - Free download as Powerpoint Presentation (.ppt), PDF File (.pdf), Text File (.txt) or view presentation slides online. helpful for those who study embryology as part of their curriculu Genetic Disorders/Diseases. 3 Minute Presentations In your power point presentation, answer the following questions about your genetic disorder: Title. Mode of Inheritance. Determine whether your disorder is an autosomal dominant trait, an autosomal recessive trait, or a sex-linked trait. What causes the disorder? (mutation, non-disjunction This chromosome disorders lecture explains the result of chromosome mutation in human.For more information, log on to-http://www.shomusbiology.com/Get Shomu'.. Chromosomal Disorders Project Nondisjunction Situations 1. Extra chromosome on 13 2. Extra chromosome on 21 3. Only one X on 23 4. Two X chromosomes on 23 for a male Prepare a PowerPoint presentation with slides for each of the above situations in which the chromosomes have failed to separate properly. Address the following
Unstable chromosomal aberrations Stable chromosomal aberrations * Cytokinesis block micronucleus (CBMN) assay * Needs for automation Several steps require operator intervention during the process Setting up cultures Processing cultures through to making slides In case of mass casualty many tubes have to be handled: Difficult; Risk of mistakes. The pattern of gross abnormalities can often suggest a possible chromosomal abnormality or a syndrome. Abnormalities can often be quite subtle, particularly the earlier the gestational age. Consultations are obtained with clinical geneticists to review the findings. A description of the findings is put into a report (surgical pathology or autopsy) Isochromosomes are abnormal chromosomes with identical arms - either two short (p) arms or two long (q) arms. Both arms are from the same side of the centromere, are of equal length, and possess identical genes. Pallister-Killian syndrome is an example of a condition resulting from the presence of an isochromosome.[5 <p>Chromosomal abnormalities are common causes of birth defects that can affect the brain and other parts of the body. The normal fertilized egg cell contains 23 chromosomes from the mother and 23 from the father. Thus, there are normally 23 pairs of chromosomes in the fertilized egg. These include two sex chromosomes: XX for girls and XY for boys Placenta Abnormal | Embryo Slides. Circumvallate placenta is an abnormally shaped placenta where the chorionic membranes are not inserted at the edge of the placenta, but are located inward from the margins toward the placental cord. The membranes are described as doubled back over the fetal surface of the placenta
Causes of Chromosomal Abnormalities The cause of chromosomal abnormalities remains poorly understood. Studies of various types of leukemia have shown that certain environmental and occupational exposures and therapy with cytotoxic drugs can induce chromosomal aberrations. For example, cases of the myelodysplastic syndrome or acute myeloid leukemi There are three types of genetic disorders. Chromosomal disorders result in a change in the of the number of chromosomes, either more than 46, less than 46, or missing or added portions of chromosomes. Examples include Down Syndrome that has an extra chromosome and Turner Syndrome where a female only inherits one X chromosome Chromosomal Disorders * * * Karyotype A karyotype is a picture that shows all chromosomes in a cell lined up from longest pair to shortest pair with sex chromosomes last. They are used to check for chromosome disorders and the sex of the child. A B Which karyotype is haploid? A B Which karyotype would you find in a somatic cell
Sex Chromosome Disorders: More common than autosomal disorders Turner syndrome (45, X) • 1:3000 female births • Extensive karyotype heterogeneity with question about existence of pure monosomy X (99% of 45, X eggs are non-viable) • Short stature, webbing of the neck, cardiovascular abnormalities, lack of secondary sex characteristics, strea ABSTRACT: Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient's risk of carrying a fetus with a chromosomal disorder. A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations
*Trisomies were found of all chromosomes except numbers 1,2,3,5,6,12 and 19. Analysis: **In our study of blood chromosomes on over 550 couples with infertility, 3% of them showed an abnormal chromosomal karyotype. 4.3% of males studied and 1.5% of females studied had abnormal blood chromosome results BIG BUNDLE Genetic Disorders and DNA Mutations with Chromosomal Abnormalities is an excellent resource to use in a traditional, hybrid, or distance learning environment. The student guided notes and worksheets are in both printable and digital fillable pdf files. This a 350 slide PowerPoint Presentation on Karyotypes,Genetic Disorders, Stem. Compose a short story, PowerPoint presentation, video, poem, or significant piece of art to describe a day in the life of a teenager afflicted with a single gene disorder or chromosomal abnormality. You need to include the causes and effects of the disorder and pose a question about a social, medical, or ethical issue(s) associated with human. Chromosomal Abnormalities. Abnormality of chromosome may be due to extra irregular portion of chromosomal DNA. There are various forms of abnormalities; they are structural abnormalities, numerical disorders, Translocation. Journal of Genetic Syndromes & Gene Therapy, Advances in Molecular Diagnostics, Journal of Molecular Biomarkers. Clonal chromosomal abnormalities in Philadelphia chromosome-negative (CCA/Ph −) metaphases emerge as patients with chronic phase chronic myeloid leukemia (CP-CML) are treated with tyrosine kinase inhibitors (TKIs).We assessed the characteristics and prognostic impact of 598 patients with CP-CML treated on clinical trials with various TKIs
Genetic or Chromosomal abnormalities that occur during fetal development can lead to a variety of developmental disabilities or medical conditions that can affect a person throughout their lifetime. Thanks for installing the Bottom of every post plugin by Corey Salzano. Contact me if you need custom WordPress plugins or website design The remainder of the presentation will discuss these syndromes and their features. (1) * Kilinefelter syndrome can occur as the result of an individual having one Y and two X chromosomes instead of one of each. Karyotype of a normal female Karyotype of a normal male Chromosomal Abnormalities Chromosomal Abnormalities Chromosomal.
Chromosomal Disorders Author: Department of Human Genetics Last modified by: Times New Roman Default Design SEX SEX X and Y chromosomes PowerPoint Presentation Y-chromosome genes Sex Determination Sex Determination X and Y chromosomes at meiosis Sex-determining region Y PowerPoint Presentation Dosage compensation X-inactivation—the Lyon. Genetic Disorder PowerPoint Project - Honors Biology Fall 2011. Objective: To incorporate your knowledge about cells, cell division, genetics, and DNA to research and present a 12 slide presentation using multimedia presentation software such as PowerPoint on a specific genetic disorder Chromosomes uncoil back into chromatin. Nuclear envelopes reform, 2 new nuclei are formed, spindle fibers disappear. Division of the rest of the cell: cytoplasm and organelles. Chromatin. Author: d0803679 Created Date: 10/06/2009 09:13:49 Title: Mitosis PowerPoint Last modified by: Spainhour, Carri
Sex chromosomal abnormalities Microdeletions Single gene mutations Autosomal dominant disorders Autosomal recessive disorders X linked disorders . Chromosomal aberrations Abnormalities of autosomes Downs syndrome - Trisomy 21 PowerPoint Presentation Author: Heathe Chromosomes are really just the form DNA becomes in the nucleus when the cell is preparing to divide. (In the form of chromatin at other times.) Humans have 46 chromosomes. One set of 23 chromosomes from mom. One set of 23 chromosomes from dad. Human Chromosomes Chromatid Two exact copies of a chromosome that are connected together. During cytokinesis, the cytoplasm is divided into separate cells.. The process of cytokinesis differs in animal and plant cells. 0. Cell division is a continuum of dynamic changes. Teaching Tips. Students might keep better track of the sequence of events in a cell cycle by simply memorizing the letters IPPMAT: the first letters of interphase, prophase, prometaphase, metaphase, anaphase, and. Study Guide for Exam 1: Chromosomal Abnormalities Chromosomal Abnormalities Worksheet . Week 7. DNA Structure and Replication (PPT) (Updated) DNA Structure and Replication (Learning Objectives) DNA Replication (Learning Aid) Week 8 & 9. From DNA to Protein & Mutation (PPT) From DNA to Protein & Mutation (Learning Objectives) Quiz #6 Key. Week.
Welcome to Eating Disorders 101. Thank you for attending! This presentation will cover the causes, warning signs, symptoms, health consequences, and treatment information for eating disorders. This slide deck was put together by the National Eating Disorders Association. If you have questions, visit their website at www.nationaleatingdisorders.org Chromosome Abnormalities. Chromosomal abnormalities can fall under two categories: Structural abnormalities (eg, deletions or rearrangements) or; Abnormalities of chromosomal number. Abnormalities of chromosomal number generally arise from meiotic non- disjunction (failure of chromosome pairs to separate during cell division) or through anaphase lag (loss of chromosome during cell division)
Document presentation format: On-screen Show (4:3) Company: 뿿 Other titles: Times Arial Calibri Times New Roman Blank Presentation 1_Blank Presentation PowerPoint Presentation PowerPoint Presentation PowerPoint Presentation Females can carry sex-linked genetic disorders. A pedigree is a chart for tracing genes in a family Down's Syndrome Chromosomal Mutation Afflicted persons have an extra chromosome 21. Times New Roman Arial Tahoma Calibri Neon Frame 1_Neon Frame Bitmap Image Genetic Disorders Down's Syndrome PowerPoint Presentation PowerPoint Presentation Down Syndrome Down's Syndrome Hemophilia Hemophilia Sickle-Cell Disease Sickle-Cell Turner's.
given the variability in the clinical presentation, high comorbidity, overlap in. symptom presentation with other psychiatric disorders, the effects of development. on symptom expression, children's difficulties in verbalizing their symptoms, and. the potential effect of medication on the child's mood (Birmaher & Axelson, 2005) Painful memories, nightmares suspicion, anxiety, depression, feelings of guilt and sleep difficulties Symptoms worsen with exposure to similar events Substance abuse is a common method to cope Symptoms in Jail Jail environment can trigger symptoms Jail inmates and personnel can trigger symptoms Lack of privacy and loss of control are issues. Free Chromosomes PowerPoint Templates. DNA Paternity PowerPoint Template. The PPT is suitable for home paternity tests, gene testing projects or parternity testing presentations. This is another DNA presentation we created for genetic needs. It can be used to show paternity test results in a lab. Also can be used at classroom in subjects. Meiosis Gamete formation Key words Meiosis Prophase Metaphase Anaphase Telophase Homologous pairs Chiasmata/chiasma Crossing over Diploid Haploid Maternal chromosomes Paternal chromosomes Revision The human chromosome complement is 46 chromosomes This means humans have 23 pairs of chromosomes There are 22 matching pairs of autosomes There is one pair of matching sex chromosomes Males have. Combination of our body parts and chromosomes - and how we feel about having both. There's a social element, too - will often be treated differently based on our gender (real or perceived). Boys and Girls. PowerPoint Presentation Last modified by: Ashley Benson Company
Chromosome Abnormalities Fact Sheet. Chromosome abnormalities can be numerical or structural. A numerical abnormality mean an individual is either missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair. A structural abnormality means the chromosome's structure has been altered in one of several ways 1958 Jerome Lejeune and his team identified trisomy 21 (47 chromosomes-one extra chromosome 21 in cells) as cause of Down Syndrome Autism spectrum disorders thought to occur in 10% of people with Down Syndrome. PowerPoint Presentation Last modified by Such disorders are usually inherited from the parents. Assignment Guidelines. For this project you will research the genetic disorder that was assigned to you in class. When you have researched your disorder type, you will produce a Powerpoint presentation with the information you have collected. The Powerpoint presentation must include 11 slides Prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions C-Obs 59 Page | 4 1. Patient summary Every baby has a small chance of having a chromosomal or genetic condition. Prenatal screening for some chromosomal and genetic conditions is offered during pregnancy to provide the woman wit
Chromosomal Disorders If two copies of an autosomal chromosome fail to separate during meiosis, an individual may be born with three copies of that chromosome. This condition is known as a trisomy, meaning three bodies Chromosome Abnormalities • Down Syndrome - Extra copy of chromosome 21. Also called Trisomy 21 - Have 47 chromosomes. • One of only a few trisomy disorders in which the child has high probability of living to adulthood - Short stature - Mental retardation - Reduced life span - Characteristic feature CHROMOSOMES. INTRODUCTION CHROMOSOMES carry most of the genetic material and therefore they: carry inherited traits carry the organisation of the cell life heredity: each pair of homologues consists of one paternal and one maternal chromosome --> diploidy (2 lots). The intact set is passed to each daughter cell at every mitosis Description of chromosome abnormalities Total number of chromosomes including sex chromosomes Sex chromosome constitution Numerical abnormalities For example a female Down syndrome or trisomy 21 is written as 47,XX,+21 Structural changes are designated by letters, for example 'dup' for duplicatio
Microarray is a high resolution test to assess very small gains and losses (copy number variants) of genomic information and areas of homozygosity (which might suggest an autosomal recessive condition). Microarray should be considered in an individual with: isolated autism spectrum disorder (ASD) or ASD plus other findings . Examples include mosaic constitutional chromosomal abnormalities or copy-number variants, presence of a bone marrow or tissue transplant and, in rare cases, maternal malignancy. • Different genotype of the fetus and the placental trophoblast, eithe
Overview of Chromosomal Anomalies. Chromosomal anomalies cause various disorders. Anomalies that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect sex chromosomes (X and Y). Chromosomal abnormalities fit into several categories but broadly may be considered as numerical or. . Depending on the nature of the aberration, it can lead to severe birth defects, potentially including defects incompatible with life. Chromosomal aberrations can be diagnosed with the use of a karyotype, a visualization of an organism's complete. Chromosomal Aberration or Chromosomal abnormalities occur when there is a defect in the number of chromosomes in a cell of an organism or in the arrangement of genetic material (Genes) on the chromosome. Chromosomal abnormalities give rise to specific physical symptoms, however, the severity of these depends on the type of aberration Chromosomal Diseases. Please rate topic. (M1.BC.15.73) A 36-year-old pregnant woman undergoes a routine first-trimester pregnancy screen, which demonstrates decreased free B-hCG and decreased PAPP-A. Additionally, ultrasound shows increased nuchal translucency. A presumptive diagnosis is made based upon these findings and is later confirmed.
Chromosomes. Meiosis Label - look at cells in various stages of meiosis, identify and order Meiosis Internet Lesson - look at animations of meiosis and answer questions Meiosis Powerpoint - slideshow covers meiosis, homologous chromosomes, crossing over. Modeling Chromosomal Inheritance - use pipe cleaners to show how genes are inherited; independent assortment, segregation, sex-linkag . 1 Estimates suggest that anywhere between 50 and 70% of all miscarriages are caused by random genetic problems in the developing baby. 2 . In most instances, scientists do not know the exact reason why. Intersex. Intersex is a group of conditions where there is a discrepancy between the external genitals and the internal genitals (the testes and ovaries). The older term for this condition is hermaphroditism. Although the older terms are still included in this article for reference, they have been replaced by most experts, patients and families Free Molecular Biology PPT: Classification of Chromosomes based on Position of Centromere and Length of Chromosomal Arms PPT, Metacentric and Acrocentric Chromosome