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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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... Trisomic Conceptus formation followed by single chromosome deletion 2% spontaneous abortion ... precise role in ... American journal of human genetics 65 ...
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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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based on observations that homologous chromosomes pair with each other during meiosis ... fertilization of these gametes creates trisomic or monosomic individuals ...
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In which chromosome is locus a? Test: Cross all trisomics to aa and look for deviant ratios ... Conclusion: a is not on chromosome 1 ...
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Amniocentesis and CVS Dr. Joseph Har-Toov Lis Maternity Hospital Tel-Aviv, Israel Methods of chromosomal evaluation Non invasive: Fetal cells from maternal blood ...
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Title: PowerPoint Presentation Last modified by: Kazuo Hiraizumi Document presentation format: On-screen Show (4:3) Company: Information Technolog
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Title: Chapter 15 Human Genetics Author: FA Last modified by: mhalqahtani Created Date: 3/9/2001 3:19:18 PM Document presentation format: On-screen Show
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In plants, these gametes are not viable. In animals, ... Types of Chromosome Mutations 50% of spontaneous abortions are associated with chromosome abnormalities.
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Title: Author: Yue-Wen Wang Last modified by: Yue-Wen Wang Created Date: 5/8/2001 2:34:11 AM Document presentation format
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Title: Author: Yue-Wen Wang Last modified by: Yue-Wen Wang Created Date: 5/8/2001 2:34:11 AM Document presentation format
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CVS results ... Trans abdominal and transcervical CVS are equally safe and efficacious, provided ... CVS shows that the placenta is affected ...
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Types of Chromosome Mutations Aneuploidy (2n +/- m) Aneuploids differ from wild-type individuals by part of a chromosome set. Nondisjunction is a common mechanism for ...
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Title: DIAGNOSTICO PRENATAL Author: Manuel Last modified by: usuario Created Date: 10/24/2006 5:04:43 AM Document presentation format: Presentaci n en pantalla
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The formation of gametes in animals is called gametogenesis. In humans, ... using the ultrasound for guidance. ... Small testes. Female features ...
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The Chromosomal Basis of Inheritance Chapter 15 Biology Campbell Reece Chromosome Theory Chromosome Theory of Inheritance Mendelian genes have specific loci ...
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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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... 47XXY Nondisjunction Nondisjunction Turner Syndrome = 45XO Chromosomal Mutations Chromosomal Mutations Nondisjunction Aneuploidy: incorrect # chromosomes ...
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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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Human Genetics: Genetic Disorders Ms. Y. Martinez LSHS 07-08
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Mistakes in Meiosis Including Mutations & Non-disjunction What is a Gene? A gene is the basic unit of heredity in a living organism Genes hold the information to ...
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Title: Brooker Chapter 8 Author: Johnny El-Rady Last modified by: Jose Carde Created Date: 9/17/2003 11:54:39 AM Document presentation format: On-screen Show (4:3)
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possibly affecting more than one gene (multi-gene level) Changes in NUMBER ... Interstitial deletion. Terminal deletion. Crossing over between repetitive DNA ...
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Reproductive Biology Cell Division Somatic cell division (Mitosis) Reproductive cell division (Meiosis) Flowering and Anthesis Megagametogenesis (EMC to Egg Cells)
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Title: PowerPoint Presentation Author: Valued Gateway Client Last modified by: david segal Created Date: 9/1/2003 3:30:09 PM Document presentation format
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Hay un predominio del sexo femenino, en una proporci n de 3:1. ... Cromosoma anormal que afecta solamente a los hombres y ocasiona hipogonadismo.
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Rules of probability 1. Rule of multiplication a. how do we determine the chance that two or more independent events will occur together in a specific combination?
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Libros recomendados Gonzalez Merlo Ginecologia y Obstetricia cl nica (Drife y Mogowan. Elsevier- Saunders) Obstetricia y ginecolog a (Guillermo Lopez Garcia Ariel)
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Principles of Genetics Announcements Lab 4 Information: B2250 (Innes) webpage download and print before lab. Virtual fly: log in and practice http://biologylab ...
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Genetic Disorders AP Biology
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... or absence of any gonads - female pathway ... A female calf (XX) born as a twin ... external genitalia is of the female type. The gonads resemble testes more ...
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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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Activities Cell Division Chapters 12-15 Is this one n or 2n? n Identify Chromatid (DNA) centromere chromosome arm Identify the parts pointed at name the stage ...
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Week 11 CHROMOSOMES Chapter 10 pages 180-186 Genetics I Chapter 11 pages 189-201 Summary X-some NUMBER changes Autosomal Monosomy Trisomy Sex x-some XO XY Female XXY ...
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Chapter 12 Chromosomal Inheritance
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Down's syndrome (Trisomy 21 as there are 3 copies of chromosome 21 in Down's ... Can lead to Down's Syndrome. Alterations of Chromosome Structure. Deletion ...
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HUMAN INHERITANCE Chapter 14 SUMMARY Human genetic analysis Pedigree charts Autosomal inheritance patterns Dominant and recessive X-linked inheritance patterns More ...
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NOTES: Ch 15 - Chromosomes, Sex Determination & Sex Linkage What is the probability that: a) they will have a son who is colorblind? b) they will have a daughter who ...
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Title: Nerve activates contraction Author: Karl Miyajima Last modified by: mnmelan Created Date: 12/11/2000 1:39:32 AM Document presentation format
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is called a paracentric inversion. Absence of recombination within an inversion ... an inversion loop of a paracentric inversion creates dicentric and acentric ...
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Objective #2: Chromosomal aberration. Deletion: Loss of a segment within one chromosome arm ... Objective #2: Chromosomal aberration. Inversion: ...
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Attributed to over-expression of FMR1 mRNA (5 fold to 8 fold) rather than to the ... mother - son- grandchild. Uniparental Disomy in PWS ...
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... congenital hip dislocation, abdominal cystic mass, pes equinivarus, exencephaly Minor malformations: 1.4% syndactyly, hydrocele testis, ASD, ...
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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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the chromosomal basis of inheritance
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Familial Down Syndrome ... Incidence of Primary Down Syndrome Increases with Maternal Age ... 1/3 normal 1/3 Down Syndrome. Human Sex Chromosome Aneuploidy ...
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human or any eukaryotic chromosomes only require 3 classes of DNA sequences: ... Centromeres are a primary constriction in the chromosome ...
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... (n): This is the number of chromosomes observed in a male gamete of an individual. It is used to indicate results from a meiotic study. ...
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... transmitted by genes or chromosomal aberrations, that may be heritable ... NONDISJUNCTION (Chromosomal numerical ... I. MORPHOLOGIC/ STRUCTURAL ...
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Tissue Culture Applications Micropropagation Germplasm preservation Somaclonal variation & mutation selection Embryo Culture Haploid & Dihaploid Production
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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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The abnormal state where one or two or a few entire chromosomes are lost from or ... [From Speicher & Carter (2005) Nature Rev Genet 6:782] ...
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Meiosis AP Biology Unit 3 Meiosis Process that occurs to form haploid cells from diploid cells Forms gametes sperm and egg Homologous Chromosomes A pair of ...
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Chapter 15 The Chromosomal Basis of Inheritance
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