61. Much Ado About Chromosomes By Jamie McNeill Identify chromosomal abnormalities on karyotypes and chromosome models. Identify some of the more common chromosomal disorders by their karyotype. Materials http://www.swmed.edu/stars/resources/stock01/mcneill.html

Download as a Word file (PC format) View as a PDF file with Acrobat Reader (PC or Mac) Much Ado About Chromosomes Teacher: Jamie McNeill; Azle,Texas Research Host: Roger Schultz, Ph.D.; University of Texas Southwestern Medical Center, Dallas, Texas Suggestions for Teachers Purpose During this activity students will investigate normal chromosome structure, chromosome mutations, some mechanisms that cause them, and their phenotypic expression. They will expand this knowledge by completing and analyzing karyotypes like those done in genetics labs. Students will then synthesize this knowledge and their research on an unknown model to determine the type of chromosome abnormality present, the cause of the abnormality, and the diagnosis of the specific genetic disorder. This activity might best be used as an extension activity at culmination of the genetics unit in a first year Biology class or as an exercise in Advance (AP) Biology to teach eukaryotic chromosomes, mutations, biotechnology and its applications. Objectives By the end of this activity the student will be able to: Identify chromosome structures.

62. UTMB - The Women's Health Center At Bay Colony Town Center - Healthcare Library Genetic Disorders in Pregnancy. Problems in the genes or chromosomes of the chromosomal disorders Genetic disorders also may be caused by problems with http://www.utmb.edu/whc/healthcare/obstetrics/GeneticDisordersPregnancy.html

Genetic Disorders in Pregnancy What Is Genetics? Normally, a man's sperm and a woman's egg have 23 chromosomes each. All other cells in the body have 46. Each chromosome carries many genes. Genes also come in pairs. A gene or a genetic disorder is either dominant or recessive. If one gene in a pair is dominant, the trait it carries cancels out the trait carried by the recessive gene. For a recessive trait to appear, the gene that carries it must be inherited from both parents. Types and Causes of Disorders Genetic disorders may be caused by problems with either genes or chromosomes. Dominant Disorders Just one gene from either parent can cause a dominant gene disorder. If a parent has the gene, each of his or her children has a 1-in-2 (50 percent) chance of inheriting the disorder. Recessive Disorders Each person carries a few recessive genes. Most of the time, these genes are canceled out by dominant genes. If you have a recessive gene for a certain disorder, you are a carrier. If both you and your partner are carriers for the same recessive disorder, each of your children has a 1-in-4 (25 percent) chance of having the disorder.

63. IndiaParenting.com - Coping With Birth Defects There are three categories of genetic disorders chromosomal disorders multifactorial inheritance and single-gene disorders. http://www.indiaparenting.com/articles/data/art07_006.shtml

Coping With Birth Defects The root of the problem Most parents have a niggling fear that the nine months of pregnancy is comparable to walking through a minefield. Things can go wrong at any time. They only breathe a sigh of relief when they’ve counted all ten toes and fingers of their newborn. It’s no wonder they feel that way because it can be the most devastating thing if your baby is born with a birth defect. Birth defects can be caused by genetics or by environmental factors or a combination of both. There are three categories of genetic disorders: chromosomal disorders, multi-factorial inheritance and single-gene disorders. Chromosomal disorders are caused by an abnormality in the number or structure of the chromosomes in each cell. Chromosomal abnormalities are rarely inherited. The most common chromosomal disorder is Down’s Syndrome that is the result of each cell having 47 instead of 46 chromosomes. Multi-factorial inheritance is the result of the interaction between faulty genes and a negative environment. For instance, spina bifida and anencephaly are disorders that fall into this category. Single-gene disorders are caused by a single defective gene and can be passed on from generation to generation in three possible ways: dominant inheritance, recessive inheritance and X-linked inheritance. In the case of dominant inheritance, a single faulty gene from either parent can result in the child having a birth defect. The faulty gene dominates the normal gene counterpart inherited from the other parent and causes the child to inherit the disorder. Each child has a 50% chance of inheriting the defect, as the affected parent will either pass on the normal gene or the defective one. Examples of such disorders are hypercholesterolemia (high blood cholesterol) and Huntington’s disease (progressive nervous system degeneration).

64. Fetal Heart Rate Patterns In Pregnancies With Chromosomal Disorders Or Subsequen Fetal heart rate patterns in pregnancies with chromosomal disorders or subsequent fetal loss. JM Martinez, C Comas, J Ojuel, A Borrell, B Puerto, http://www.greenjournal.org/cgi/content/abstract/87/1/118

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Martinez, J. Articles by Fortuny, A Articles Fetal heart rate patterns in pregnancies with chromosomal disorders or subsequent fetal loss JM Martinez, C Comas, J Ojuel, A Borrell, B Puerto, and A Fortuny This article has been cited by other articles: C. Comas, M. Torrents, A. Munoz, E. Antolin, F. Figueras, and M. Echevarria Measurement of Nuchal Translucency as a Single Strategy in Trisomy 21 Screening: Should We Use Any Other Marker? Obstet. Gynecol., October 1, 2002; 100(4): 648 - 654. [Abstract] [Full Text] [PDF] HOME ... TABLE OF CONTENTS

65. University Of Pennsylvania: School Of Veterinary Medicine - Department Of Clinic Some sex developmental and other disorders may be caused by chromosomal abnormalities .......Karyotyping for chromosomal disorders. http://w3.vet.upenn.edu/research/centers/penngen/services/cytogeneticslab/karyot

Department of Clinical Studies - Philadelphia Section of Medical Genetics - PennGen Karyotyping for Chromosomal Disorders Description: The Section of Medical Genetics offers karyotyping on a case-by-case basis. Either anticoagulated (heparinized) blood, or cultures of a certain cell type, (fibroblasts) are needed. Please contact Dr. Casal (215-898-8894) or Ulana Prociuk (215-573-7545) to discuss the details of a case and to arrange for appropriate sample submission and karyotyping. Only on prearranged date with a consultation with Dr. Casal or Ulana Prociuk. Required Samples: Heparinized blood Fibroblast culture

66. CCHS Clinical Digital Library Chapter 38 Single Gene and chromosomal disorders Access document. Introduction Access document; Single Gene Disorders Access document http://cchs-dl.slis.ua.edu/clinical/genetics/general.htm

Clinical Resources by Topic: Genetic Disorders General Genetic Disorders Clinical Resources Clinical Guidelines Clinical Trials News Miscellaneous Resources See also: Genetic Testing Clinical Resources Harrison's Principles of Internal Medicine 16th Ed.-2005: Table of contents Health Sciences Library subscription INFO Chapter 56. Principles of Human Genetics: Table of contents Impact of Genetics on Medical Practice: Access document Chromosomes and DNA Replication: Access document Regulation of Gene Expression: Access document Cloning and Sequencing DNA: Access document Transgenic Mice As Models of Genetic Disease: Access document Implications of the Human Genome Project: Access document Transmission of Genetic Disease: Access document Further Reading: Access document Chapter 57. Chromosome Disorders: Table of contents Introduction: Access document Visualizing Chromosomes: Access document Indications for Cytogenetic Analysis: Access document Chromosome Abnormalities: Access document Chromosomal Syndromes: Access document Acquired Chromosome Abnormalities in Cancer: Access document Further Reading: Access document Chapter 58. The Practice of Genetics in Clinical Medicine:

67. Current Opinion In Pediatrics - UserLogin in the more traditional domains of single gene and chromosomal disorders. of individuals even if they lack other features of a chromosomal disorder, http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-200212000-00007.htm

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68. NORD - National Organization For Rare Disorders, Inc. Chromosome 8p duplication disorders are extremely rare chromosomal disorders in which These rare chromosomal disorders, known as 8p duplications or http://www.rarediseases.org/search/orgdetail_full.html?org_name=8p Duplication S

69. Penn State Faculty Research Expertise Database (FRED) chromosomal disorders, Autosomal Chromosome Disorder. Chromosomal Disorder, Chromosome Abnormality Disorder. Chromosome Disorder, Chromosome Disorder, http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D025063

70. TESTING FOR GENETIC DISORDERS of MSAFP is elevated in neural tube defects (NTDs) and low in certain chromosomal disorders. fragile X syndrome, or certain chromosomal disorders. http://www.usd.edu/med/som/genetics/curriculum/1ITEST7.htm

Table of Contents- Lesson 1 Next (Glossary) TESTING FOR GENETIC DISORDERS CLINICAL DIAGNOSIS There is a large number of multiple congenital anomaly (MCA) syndromes whose diagnosis is based on gestalt-a clinical impression that quickly comes to mind on seeing the patient. The diagnosis of achondroplasia, for instance, rests solely on the clinical examination that may include anthropometric measurements and x-rays. There are no biochemical tests needed for confirmation. When making a clinical diagnosis, problems arise in situations where there is a continuum between the normal and abnormal phenotypes. Autosomal dominant traits can be mild, moderate, or severe. On the mild end of the spectrum, the diagnosis can be questionable. For this reason, criteria have been established for the diagnosis of certain disorders. As an example, the diagnosis of neurofibromatosis requires two or more of the following features: six or more cafe-au-lait spots greater than 5 mm in diameter, axillary freckling, two or more neurofibromas or one plexiform neurofibroma, optic glioma (tumor within the eye), Lisch nodules (small tumors on the iris), bone lesions, or a first degree relative with neurofibromatosis. Often observation over time is required to establish a diagnosis. Included in Appendix D is a fact sheet on NF discussing diagnosis, genetic counseling and follow-up. Fact sheets are useful for patient reference and for understanding the need for follow-up care. SCREENING TESTS When available, laboratory tests can be invaluable in establishing a diagnosis or identifying individuals who carry genes coding for adult onset dominant or recessive genetic conditions.

71. Cure Autism Now Foundation AGRE, Draft For NIH Diagnostic Conference Several chromosomal disorders have been found in patients with autistic Of the chromosomal disorders found in association with autistic disorder and http://www.agre.org/reference/fullarticles/draft.html

Draft for NIH Diagnostic Conference The Role of Genetics in the Diagnosis of Autistic Disorder Edwin H. Cook, Jr., M.D. Bennett L. Leventhal, M.D. David H. Ledbetter, Ph.D. -University of Chicago Evidence for Genetic Factors in Etiology of Autistic Disorder Autistic disorder is a strongly genetic disorder (reviewed in 7). The concordance rate for a narrow diagnosis of autism is greater than 50% in monozygotic twins compared to 0% in dizygotic twins. For a broader phenotype including severe social and language impairment, concordance is greater than 90% in monozygotic twins compared to approximately 10% in dizygotic twins (2). The recurrence risk for autistic disorder in siblings has been estimated between 4.5% and 8.9%, but more data is necessary to refine and generalize this estimate from two studies from one research group (20,15). The relative recurrence risk (ls) for autistic disorder is conservatively 4.5%/0.1% = 45. In addition, relatives without autistic disorder are also at increased risk for other disorders including a lesser variant of autistic disorder (12,19) and mood, anxiety, and substance abuse disorders (18,1,22,4). The findings above have stimulated several predominantly affected sibling pair genome-wide screens to identify susceptibility genes for autistic disorder, including the first report with suggestive linkage between autistic disorder on 7q, 16p and 4p (14). Candidate gene studies have suggested linkage between the serotonin transporter gene (HTT) and autistic disorder (8) and between the GABAA receptor beta 3 subunit gene (GABRB3) (9). When specific mutations are identified, they may contribute to diagnosis of autism and particularly may be helpful in defining subgroups of patients with autistic disorder by identifying susceptibility genes underlying clinical or genetic heterogeneity seen in autistic disorder. However, statistical modeling of the nature of autistic disorder susceptibility genes in autistic disorder suggests that several loci act together to increase susceptibility to autistic disorder.

72. Researching Chromosomal Disorders Researching chromosomal disorders. A look into the small things in life. The objective of this research project is to get an understanding of the different http://www.ncusd203.org/north/academy/sresources2_files/researchingchromosomaldi

Researching Chromosomal Disorders A look into the small things in life. The objective of this research project is to get an understanding of the different type of genetic problems many people on the planet face today. Some of these will affect us in our lifetime, this is going to give each of us some background on what they are. Please be a thorough and accurate as possible. Here is what you need to have and will be graded on: q Name of genetic disorder (it has to be a GENETIC disorder) q Symptoms of disorder q How often it occurs q Onset of disorder (when do symptoms show themselves) q Why the disorder happens, causes-extra chromosome, mutation, etc. q Pictures of symptoms q Cures or potential cures, treatments q Other education for example, can you pass on the problem? How is it passed on? Etc. q Professionalism You will create a Power Point to speak to the class about the problem, you will make a tri-fold brochure to present to people who are absent or future Academy students. Below are some of the requirements. Power Point: Brochure: Slides are readable Literature is easy to understand for our level Slides are specific and to the point Literature is specific and to the point Slides have all the information needed Literature has all the information needed Slides have useful transitions and sound Literature is creative and appealing Presentation is professional and appropriate for class Literature is created professionally and appropriately Researching Chromosomal Disorders A look into the small things in life.

73. Entrez PubMed chromosomal disorders and autism. Gillberg C. Department of Child and Adolescent Psychiatry, University of Goteborg, Sweden. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

74. Caremark.com While Down syndrome is a chromosomal disorder, a baby is usually identified at Carey, John C. chromosomal disorders. In Rudolph s Pediatrics, ed. http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

75. Distribution Of Mouse Models For Chromosomal Disorders Request - The Jackson Lab The Jackson Laboratory Cytogenetic Models Resource maintains and distributes chromosome aberration stocks that provide primarily mouse models for Down http://www.jax.org/cyto/form.html

Available Strains Cryopreserved Strains Protocols DNA Resource Home ... Cytogenetics Home National Institutes of Health National Institute of Child Health and Human Development Distribution of Mouse Models for Chromosomal Disorders Request for Animals Please fill out this form and click on the "Submit" button once to submit your request. (Attach additional sheets as required) Date: Name of Principal Investigator: Institution: Address: Phone Number: Fax Number: Email address: I. Animals Requested. Strain Name: Number of Mice Requested: Genotype: Sex: Breeding Pairs: Strain Name: Number of Mice Requested: Genotype: Sex: Breeding Pairs: Strain Name: Number of Mice Requested: Genotype: Sex: Breeding Pairs: II. Research Project Description Please provide a brief description of the research project for which mice will be used. This information is used soley to help us determine the kinds of research for which Resource mice are being used. A synopsis of the information from all users will be used to justify continuation of the Resource. Actual material provided will be confidential. III. Other Information

76. Are Clinical And Biological IVF Parameters Correlated With Chromosomal Disorders Are clinical and biological IVF parameters correlated with chromosomal disorders in early life a multicentric study. M Plachot, A Veiga, J Montagut, http://humrep.oxfordjournals.org/cgi/content/abstract/3/5/627

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77. Exploring Genes & Genetic Disorders Images of all 24 human chromosomes and different genes that have been mapped to Support Groups and Organizations for Genetic and chromosomal disorders http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/

Human Genome Project Information Genomics:GTL Microbial Genome Program home The U.S. Department of Energy Biological and Environmental Research program funds this site. S cientists, enabled by the Human Genome Project , are churning out an unprecedented volume of data on human chromosomes and the tens of thousands of genes residing on them, many associated with genetic disorders. These data, and many Web sites on human genetic disorders, are freely accessible on the Internet. Gene Gateway, originally designed as a Web companion to the popular Human Genome Landmarks poster, is a collection of guides and tutorials designed to help students and other novice users get started with some of the resources that make these data available to the public. This Web site introduces various Internet tools that anyone can use to investigate genetic disorders, chromosomes, genome maps, genes, sequence data, genetic variants, and molecular structures. NOTE : Genetic disorder information furnished by resources described in this guide should not be used as a substitute for consultation with a physician. Questions or concerns regarding any medical condition should be discussed with a professional, such as a physician, genetic counselor, or medical geneticist. For more information on genetic health professionals, see the HGPI

78. UpToDate Etiology Of Birth Defects Single gene disorders (15 to 20 percent); Chromosomal abnormalities (5 percent) CHARACTERISTICS OF chromosomal disorders — There are certain common http://patients.uptodate.com/topic.asp?file=pregcomp/8988

79. Welcome To The Genetics Public Policy Center More than 3000 individuals have used PGD for chromosomal disorders. · More than 1000 PGD cycles have been performed for single gene disorders. http://www.dnapolicy.org/genetics/facts.jhtml

80. Title: Application Of Microsatellite Genotyping In Chromosomal Application of Microsatellite Genotyping in chromosomal disorders chromosomal disorders can be structural or numerical. Unbalanced chromosome disorders http://www.ym.edu.tw/excellence/genome2000/sympo/genotype/ChungMY.html

Genome 2000 Application of Microsatellite Genotyping in Chromosomal Disorders Ming-yi ChunG Department of Medical Research and Education, Veterans General Hospital-Taipei, Taiwan, R.O.C. Microsatellite markers, a.k.a. short tandem repeats (STR) or simple tandem repeats, contain repetitive sequence composed of di-, tri-, or tetra-nucleotides. The number of repeats may vary from one person to another, i.e. polymorphic, and follow Mendelian inheritance. Due to their high informativeness and easy accessibility, these markers have been widely applied in various field of genetic research. Chromosomal disorders can be structural or numerical. Unbalanced chromosome disorders can be further investigated to delineate the nature of the defect, in terms of imprinting/parental origin and size of chromosome involved in the defect by using microsatellite genotyping. Chromosome 22q11 microdeletion syndrome and trisomy 21 will be discussed as examples.

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