41. Gene Disorders Some chromosomal disorders are inherited, but most are caused by a sporadic error in the genetics of the egg or sperm. The chance of a child having these http://freaks.monstrous.com/gene_disorders.htm

42. Topica Email List Directory Category, Top Health Fitness Diseases Conditions chromosomal disorders. Lists, Topica Editor s Choice. Topica Pick, List Has Readable Archives. http://lists.topica.com/dir/?cid=2952

43. Down Syndrome For Your Information. Books. Carey, John C. chromosomal disorders. In Rudolph s Pediatrics, ed. Abraham M. Rudolph. Stamford Appleton Lange, 1998. http://www.healthatoz.com/healthatoz/Atoz/ency/down_syndrome.jsp

44. Andrology Institute Of America - Our Services Women aged 35+, by testing for agerelated chromosomal disorders women with repeated unexplained miscarriages, by testing for chromosomal disorders http://www.aia-zavos.com/pgd.htm

Preimplantation Genetic Diagnosis (PGD) The Andrology Institute of America together with the are proud to offer Pre-Implantation Genetic Diagnosis (PGD) services to all our patients for gender selection (familiy balancing) and also to eliminate chromosomal abnormalities. There are many different medical, social, economic or cultural circumstances which put couples under the most intense pressure to produce a child of a specific gender. Scientists have identified thousands of health problems where genes play a part and many gender-related medical disorders can be passed from parent to child. Pre-Implantation Genetic Diagnosis (PGD) is a medical procedure which allows embryos to be tested for gender-related genetic conditions, prior to being placed in the womb, giving the best opportunity to select the gender of your baby. PGD involves tried and tested assisted conception techniques which are safe, reliable and ethically sound. In-vitro fertilization is now widely accepted and this forms the basis of our gender selection program. PGD is beneficial when: Either one of a couple carrying a single gene defect, by testing for specific genetic disorders

45. Support Groups site is Trisomy 18, Trisomy 13 and other related chromosomal disorders. UNIQUE Rare chromosome disorder support group; Chromosomal Triploidy Support http://www.medgen.ubc.ca/wrobinson/mosaic/support.htm

chromosomal Mosaicism HOME TABLE OF CONTENTS SEARCH BACKGROUND ... GLOSSARY Resources SUPPORT GROUPS Links Directories of support groups Canadian Directory of Genetic Support Groups - a resource guide for families and professionals seeking information on genetic support groups in Canada Directory of online genetic support groups - for sharing medical genetics knowledge and resources with other health care practitioners, patients, and caregivers. Support groups FAQs References Genetics Clinics Listings of support groups Chromosome Deletion Outreach is a non-profit organization providing information and support for families and professionals affected by chromosome deletions, trisomies, inversions, translocations and ring chromosomes The Genetic Alliance is an international coalition of individuals, professionals and genetic support organizations that is working together to enhance the lives of everyone impacted by genetic conditions. GAPS G enetic information a nd P atient s ervices) - Easy-to-understand descriptions of disorders, links to information sites or support group websites, alphabetical listing of support groups, easy-to-understand definitions of medical terms

46. Tyler Medical Clinic :: Over A Decade Of Experience With Preimplantation Genetic Preimplantation Genetic Diagnosis chromosomal disorders Genetic Laboratory Genetic Material Polymerase Chain Reaction Genetic Conditions Autosomal http://www.tylermedicalclinic.com/pgd-presentation6.html

Preimplantation Genetic Diagnosis Presentation Fig. 6. Preimplantation Genetic Diagnosis (PGD) can be used in all three major groups of genetic abnormalities or diseases to assure the genetic health of future children. Back Next The content of the Tyler Medical Clinic site, such as text, graphics, images and other material ("Content") are for informational purposes only. The Content is not intended to be a substitute for a professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on the Tyler Medical Clinic Site! In Vitro Fertilization In Vitro Fertilization Preimplantation Genetic Diagnosis Presentation Genetics and Reproductive Medicine Sterility Treatment since 1942 Investigating Infertility oocyte/egg ... Elimination of Genetic Diseases

47. Tyler Medical Clinic :: Preimplantation Genetic Testing The last category includes chromosomal disorders, where a variety of chromosomal rearrangements, including translocations, inversions, and chromosome http://www.tylermedicalclinic.com/pgd.html

Preimplantation Genetic Diagnosis What Is PGD? Preimplantation Genetic Diagnosis (PGD) is a procedure combining recent significant advances in molecular genetics and assisted reproductive technology. PGD allows physicians to identify various genetic diseases in the embryo (fertilized egg with several divisions) prior to implantation, that is, before the pregnancy is established. It is of special value for those who are at risk of having children with serious genetic problems. Who Should Consider PGD? The primary candidates for PGD are couples who might have been previously discouraged from having children of their own because of the danger of transferring genetic problems to the next generation. When the possibility of a genetic abnormality is identified, they are faced with the difficult decision to terminate the pregnancy. This decision is especially difficult for women who have had trouble conceiving and finally were able to get pregnant only through one of the assisted reproductive technologies. How Available Is PGD?

48. Int. J. Dev. Biol. - Chromosomal Disorders And Nuclear And Cell Destruction In C chromosomal disorders and nuclear and cell destruction in cleaving human embryos Stefka M. Delimitreva*,1, Ralitsa S. Zhivkova1, Ilya Ts Vatev1 and Draga I. http://www.ijdb.ehu.es/web/paper.php?doi=041909sd

49. Enabling Cookies: MedicinesComplete of chromosomes can reveal the presence or absence of chromosomal disorders. facilities are concerned with single gene or chromosomal disorders, http://www.medicinescomplete.com/mc/merec/current/500064.htm

Skip navigation Home Print Help ... Log in Printed from: MedicinesComplete , 2005 ed. London: Pharmaceutical Press. Electronic version, 2005. Welcome About us What's new? Products News ... Links New visitors Prices Trials Subscribe Subscribers Log in My account Support Skip navigation ... Home Enabling Cookies We have detected that your browser does not have cookies enabled, which are required to access this site. Please follow the instructions below to enable cookies on your browser. Internet Explorer Mozilla Mozilla Firefox Opera ... Konqueror If you still see this message, please contact technical support. Please see our for information about how cookies may be used. Internet Explorer Internet Explorer 6 (Windows) You can set your browser to accept cookies specifically from this site. From the Tools menu, select Internet Options Click on the Privacy tab. Under Web sites , click the Edit button. Under Address of Web site , enter medicinescomplete.com Click Allow to allow all cookies from www.medicinescomplete.com to be accepted by your browser. Internet Explorer 5 (Windows) From the Tools menu, select

50. Science Lesson: Karyotype Puzzle Probability of Being Born With Specific chromosomal disorders The most common chromosomal disorder is Trisomy 21, more commonly known as Down Syndrome. http://pulse.pharmacy.arizona.edu/dawn_new/science/karyotypes.html

Science Lessons What are you Eating? Putting on Mass Sugar and Light Without Pigments What are little plants made of When is a Pest an Insect Acute Toxicity Just Spray 'Em What is DNA? DNA Replication How things go Wrong Protein Synthesis Karyotypes Chocolate Flavored Cherries Designer Genes Frankenfoods or Golden Rice? Dawn of New Revolutions Lessons Science Math Social Studies Major Projects Dawn of New Revolutions Home Karyotype Puzzle By Kirstin Bittel, Rachel Hughes, and Laura Carsten Time: 1 class period Preparation Time: 10-15 minutes photocopying handouts Materials: Overhead 1 Student karyotypes Abstract During this lesson students are introduced to human karyotyping as a means to diagnose human mutation caused by errors during the formation of zygotes or during the process of meiosis. Objectives Students will be able to:- 1. Identify chromosome pairs based upon band patterns and location of centromere.

51. Template Chromosomal Disorders - Karyotype Maps TRISOMY 13 PATAU S SYNDROME Chromosomal Disorder Chromosome Maps Chromosomal Disorder Karyotypes Internet Research Tips Easy PowerPoint http://k-12.pisd.edu/currInst/science/Genetic/Karyo-tri13.htm

GENETIC DISORDERS Genetic Disorders Instructions Storyboard Gene Disorder Chromosome Maps ... Easy PowerPoint TRISOMY 13 PATAU'S SYNDROME Chromosomal Disorder Trisomy 13 Patau's Syndrome Chromosomal Addition RIGHT click on the chromosome to get "Save Image As" choice. Be sure you save it to your Genetics Project folder. Use your own H drive (the one with your name) or the Projects drive. Patau's Syndrome Trisomy of Chromosome HUMAN KARYOTYPE SHOWING TRISOMY OF CHROMOSOME 13 (Link to Normal Karyotype (Top of Page Genetic Disorders Instructions ... (Top of Page) SCOPE PROJECT 2000 Plano ISD - scope@pisd.edu (Top of Page)

52. CMGS-Chromsome Abnormalities/17.12.98 Approximately 20% of all conceptions have a chromosomal disorder, The frequency of chromosomal disorders in early spontaneous abortions is 60%, http://www.ich.ucl.ac.uk/cmgs/chromabs.htm

MRCPath 17.12.98 Session 1 Chromosome Abnormalities When mutations involve large parts of the chromosome such that they are visible under the light microscope, they are called chromosome aberrations. With routine light microscopy the smallest visible addition or deletion from a chromosome is about 4Mb. Chromosome abnormalities are classified into numerical and structural abnormalities. They can involve either the sex chromosomes or the autosomes. They can occur either as a result of a germ cell mutation in the parent, or more remote ancestor, or as a result of a somatic mutation when only a proportion of cells is affected. Approximately 20% of all conceptions have a chromosomal disorder, but most of these fail to implant or are spontaneously aborted so the birth frequency is 0.6%. The frequency of chromosomal disorders in early spontaneous abortions is 60%, whereas in late spontaneous abortions and stillbirths the frequency is 5%. Generally, chromosomal abnormalities that cause early spontaneous abortion tend to be those with the most severe effects on the fetus. ~30% of fetuses with trisomy 21, 75% of fetuses with 45,X, 68% of fetuses with trisomy 18 and 43% of fetuses with trisomy 13 have been found to be spontaneously aborted during the second trimester.

53. What Is The Purpose Of Karyotyping? the subject will then have a chromosomal disorder. a. Common chromosomal disorders. i. Klinefelter s Syndrome one or more extra sex chromosomes (ie, http://www.scienceteacherprogram.org/biology/Oszust04.html

Summer Research Program for Science Teachers Steven Oszust Gateway School for Environmental Research and Technology Bronx, NY August 2004 What is the purpose of Karyotyping? IO: 1. Students will be able to define the term karyotype. Students will be able to use karyotypes to make observations and analyze chromosomal errors. Students will be able to explain how karyotyping is used to diagnose specific genetic disorders. Students will make ethical decisions on the use of karyotyping. Materials: Hardcopy: Karyotyping activity worksheet , and scissors. On-Line: Courtesy of University of Arizona http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html Method: This lesson is designed as a hardcopy worksheet activity should computer internet access be unavailable, or as an interactive online activity. Students will work in groups of 4 using the hardcopy or individually online. Students will follow the instructions and match-up the chromosomes with their homologous pair. They will have a normal set for comparison. The finished work will then be analyzed and diagnosed using the chart provided. They will then answer the questions on the worksheet.

54. Amniocentesis- Medco.com you selected Amniocentesis Detecting chromosomal disorders The test can detect chromosomal disorders such as Down s syndrome, structural defects http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Test

55. Nepho | National Public Health Language NPHL tag, chromosomal disorders. Broader Term, DEATH, DISEASE AND DISABILITY. Narrower Term, DOWN S SYNDROME Occasional Paper 06 Pregnancy and Infant http://www.nepho.org.uk/index.php?nphl=CHROMOSOMAL DISORDERS

56. Genetic Causes Of Mental Retardation chromosomal disorders affect approximately 7 out of every 1000 infants. The disorder results when a person has too many or too few chromosomes, http://www.thearc.org/faqs/causeqa.html

Genetic Causes of Mental Retardation What is genetics? Genetics is "the science that studies the principles and mechanics of heredity, or the means by which traits are passed from parents to offspring" (Glanze, 1996). Through genetics a number of specific disorders have been identified as being genetically caused. One example is fragile X syndrome, a common genetic cause of mental retardation, which is caused by the presence of a single non-working gene (called the FMR-1 gene) on a child's X chromosome. Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics. Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders. Can a person's genes cause mental retardation?

57. MeSH-D Terms Associated To MeSH-C Term Chromosomal Disorders MeSHD terms associated to MeSH-C term chromosomal disorders, Nervous System of the corresponding term to chromosomal disorders, Nervous System. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Chromosomal_Disorders,_Nervous_Sys

58. Genetic Causes Of Mental Retardation chromosomal disorders affect approximately 7 out of every 1000 infants. In most chromosomal disorders, each of the parent s genes are normal. http://specialed.freeyellow.com/YAdaptUse.html

GENETIC CAUSES OF MENTAL RETARDATION What is genetics? Genetics is "the science that studies the principles and mechanics of heredity, or the means by which traits are passed from parents to offspring" (Glanze, 1996). Through genetics a number of specific disorders have been identified as being genetically caused. One example is fragile X syndrome, a common genetic cause of mental retardation, which is caused by the presence of a single non-working gene (called the FMR-1 gene) on a child's X chromosome. Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics. Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders. Can a person's genes cause mental retardation?

59. Cytogenetics Of Genetic Counseling Patients In Pelotas, Rio Grande Do Sul, Brazi Although chromosomal disorders are included among the most important causes Using this approach, a definitive diagnosis for a chromosomal disorder was http://www.funpecrp.com.br/gmr/year2004/vol3-3/gmr0066_full_text.htm

Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil A.C. Duarte , E. Cunha , J.M. Roth , F.L.S. Ferreira , G.L. Garcias and M.G. Martino-Roth Instituto de Biologia, Universidade Federal de Pelotas, Pelotas, RS, Brasil Corresponding author: M.G. Martino-Roth E-mail: martino@ufpel.tche.br Genet. Mol. Res. 3 (3): 303-308 (2004) Received June 30, 2003 Accepted May 27, 2004 Published July 16, 2004 ABSTRACT. Key words: Chromosomal disorders, Genetic counseling INTRODUCTION Chromosomal abnormalities affect at least 7.5% of all conceptions. Most of these abnormalities are spontaneously aborted and the frequency in live births is 0.6% (Connor and Ferguson-Smith, 1991). Three to four percent of all births are associated with a major congenital malformation, mental retardation, or genetic disorder, a rate that doubles by 7-8 years of age, with later-appearing or later-diagnosed genetic disorders (Milunsky, 1992). Centers for genetic counseling are important sources of information about the frequencies of chromosomal disorders, with such data allowing a more detailed analysis of these disorders (Schinzel, 1984; Mitelman, 1985). In addition, these centers allow us to determine the types or profiles of individuals who seek genetic counseling (such profiles tend to vary among developed and developing countries), and also to establish the pattern and extent of chromosomal variability in distinct human populations (Geiger et al., 1987). Although chromosomal disorders are included among the most important causes of childhood mortality in Latin American countries (OPS, 1984), in most Latin American countries, such disorders have not received much attention from state and federal governments, partly because the main health problems responsible for childhood morbidity and mortality have socioeconomic and environmental, rather than genetic, origins. As a result, few public health services perform cytogenetic studies, and most use antiquated techniques, due to funding restrictions.

60. Dna1 due to a chromosomal abnormality and is one of several chromosomal disorders Down syndrome and similar chromosomal disorders is greater than 99.9%. http://hygeia.org/poems26.htm

Prenatal Diagnosis and Screening Vol 3. No. 2 back home register Vol.3 No.2 Miriam S. DiMaio Senior Genetic Counselor Department of Genetics Yale University School of Medicine Maurice J. Mahoney, MD, JD Professor of Genetics, Pediatrics and Obstetrics and Gynecology Director, Prenatal Diagnosis Unit November, 1999 A generation ago, there were almost no tools available to assess the health of a baby prior to birth. Now, scientific and technological advances offer an ever growing window into the womb, allowing the ability to assess some aspects of fetal health and disease. A number of different testing options are available during pregnancy to women who wish to have information about the health of their fetus. The most common reason for seeking prenatal diagnosis is to determine whether the fetus has Down syndrome. Down syndrome is due to a chromosomal abnormality and is one of several chromosomal disorders which occurs which increasing frequency as a woman grows older. Most babies with Down syndrome are born to couples who have no family history of the disorder. The standard recommendation for women 35 years and older at the time of delivery is to consider the option of prenatal testing such as chorionic villus sampling (CVS) or amniocentesis which can provide definitive information about the fetal chromosomal status. The accuracy of CVS and amniocentesis for the purpose of diagnosing Down syndrome and similar chromosomal disorders is greater than 99.9%.

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