41. Birth Defects Involving Chromosomes - Trisomy Disorders Some of the risk factors may include Maternal age women over 37 years of ageare more likely to have babies with chromosomal disorders than younger women. http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Birth_defects_inv

42. CCHS Clinical Digital Library chromosomal disorders Access document Introduction Access document;Contiguous Gene Syndromes Access document; Monogenic Mendelian 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 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 65: Principles of Human Genetics: Table of contents Impact of Genetics on Medical Practice: Access document Chromosomes and DNA Replication: Access document Organization of DNA into Chromosomes: Access document Replication of DNA and Mitosis: Access document Assortment and Segregation of Genes during Meiosis: Access document Regulation of Gene Expression: Access document Introduction: Access document Structure of Genes: Access document Transcriptional Activation and Repression: Access document Cloning and Sequencing DNA: Access document Introduction: Access document Cloning of Genes: Access document Introduction: Access document Nucleic Acid Hybridization: Access document The Polymerase Chain Reaction: Access document DNA Sequencing: Access document Introduction: Access document Transgenic Mice as Models of Genetic Disease: Access document The Human Genome Project: Access document Introduction: Access document The Genetic Map: Access document The Physical Map: Access document Status of DNA Sequencing: Access document Ethical Issues: Access document Transmission of Genetic Disease: Access document Origins and Types of Mutations: Access document Functional Consequences of Mutations: Access document Genotype and Phenotype: Access document Alleles, Genotypes, and Haplotypes:

43. Orthoteers Site linked recessive; chromosomal disorders Monosomy, Trisomy, Deletion,Partial Trisomy, Translocation, Mosaicism; Multifactorial conditions http://www.orthoteers.co.uk/Nrujp~ij33lm/Orthgenetic.htm

Go Back to SYLLABUS Find in this Page: enter a search term and hit 'enter' (may take a few seconds) Search the Orthoteer Site: GENETIC DISORDERS Basic Genetics Mendelian disorders - Autosomal Dominant, Autosomal Recessive, Sex linked dominant, Sex linked recessive Chromosomal Disorders - Monosomy, Trisomy, Deletion, Partial Trisomy, Translocation, Mosaicism Multifactorial conditions/polygenic Orthopaedic implications of particular chromosomal disorders Teratogenesis Very basic genetics Genetic abnormalities can be inherited or mutations 46 chromosomes, 22 pairs of autosomes + 2 sex chromosomes. Male XY, female XX. Pair of genes in same place on autosomes = alleles Incomplete penetrance = can cause skipped generations, genotype present but no expression Variable expressivity = some disorders affect several systems to varying degrees in different individuals MENDELIAN DISORDERS = Involve a single gene. Autosomal dominant 50% chance of passing on condition to offspring Aa x aa Aa Aa aa aa Can increase severity of disease if 2 abnormal genes Normal child from a parent with disorder cannot pass disorder on Examples;

44. Sex Chromosomal Disorders First Previous Next Last Index Text. Slide 13 of 54. http://pathophysiology.uams.edu/Spring01/peds/lect40-s01/sld013.htm

First Previous Next Last ... Text Slide 13 of 54

45. Sex Chromosomal Disorders First Previous Next Last Index Text. Slide 12 of 54. http://pathophysiology.uams.edu/Spring01/peds/lect40-s01/sld012.htm

First Previous Next Last ... Text Slide 12 of 54

46. Bounty.com - The Online Guide For Parents chromosomal disorders. Chromosomes carry our genetic identity in every cell. Eachperson has 23 pairs of chromosomes, of which one pair are sex chromosomes. http://www.bounty.com/reference/section.asp?btygrpid=100&btycontid=92

47. PROCREA - Tests Available - FOR WHAT REASON DO WE PRACTICE IT? Maternal age The risk of bearing childrenwith certain chromosomal disorders increases as a woman ages. http://www.procrea.qc.ca/labA/522A.html

Amniocentesis Amniocentesis is a simple medical diagnostic procedure used to obtain a small sample of the amniotic fluid surrounding the fetus. It was first tried in 1882, and has long been used in late pregnancy to assess fetal anemia in Rh disease and to find out if the fetal lungs are mature enough for delivery. Today, amniocentesis is often used in the second trimester of pregnancy to diagnose (or far more likely to rule out) certain genetic handicaps. Amniocentesis is not routinely offered to all pregnant women because the test carries a small possibility of infection and some risk (1/400) of miscarriage. Amniocentesis is offered when there is an increased risk of chromosomal or genetic handicap, or certain malformations. Another prenatal test called chorionic villus sampling (CVS) can diagnose most, but not all, of the same genetic defects as amniocentesis. CVS is done earlier in pregnancy (usually around 10 weeks), but appears to pose a slightly higher risk of miscarriage and other complications (4%). Direct puncture of the umbilical cord (cordocentesis) is an exceptional prenatal diagnostic procedure which conveys its own specific indications as well as higher risks of fetal and maternal morbidity. FOR WHAT REASON DO WE PRACTICE IT?

48. IVI - The IVI Programmes: Maternal-Fetal Medicine Unit SPECIAL 12TH WEEK VISIT, Screening for Down's Syndrome and other chromosomaldisorders. Detection of indirect signs of chromosomal disorders. http://www.ivi.es/english/programas/materno.htm

Obstetrics Counselling Programme The Maternal-Fetal Medicine Unit at the IVI in Valencia has designed a programme of collaboration with other gynaecologists for the obstetrical assessment of those patients being monitored and who are going to be attended to in other centres. By virtue of this programme, the patient continues with her normal check-ups with her gynaecologist but makes three special visits to this unit during her pregnancy for the early diagnosis of the most common obstetrical risks and problems: SPECIAL 12TH WEEK VISIT Screening for Down's Syndrome and other chromosomal disorders SPECIAL 20TH WEEK VISIT Level III Morphological Ultrasound Cervical Ultrasound SPECIAL 28TH WEEK VISIT Fetal Echocardiography Total Fetal Health Check-up Doppler evaluation of uterine arteries Cervical Ultrasound After each of these special visits a detailed report of the tests carried out is sent to the gynaecologist in question. The remaining control of the pregnancy and birth is carried out by the patient's gynaecologist. If there are any obstetrical problems, the Maternal-Fetal Medicine Unit of the IVI in Valencia is at the doctors' disposal for any additional check they feel necessary. The Maternal-Fetal Medicine Unit of the IVI in Valencia is headed by Drs. Coral Lara and Vicente Serra. As well as working with patients, this unit carries out obstetrical teaching and research activities.

49. Gene Disorders chromosomal disorders. Some chromosomal disorders are inherited, but mostare caused by a sporadic error in the genetics of the egg or sperm. http://freaks.monstrous.com/gene_disorders.htm

50. NIH Guide: HUMAN TISSUE AVAILABLE FOR RESEARCH INTO DEVELOPMENTAL DISORDERS for the collection of tissues to further research into human developmental disorderssuch as chromosomal disorders, encephalopathies, aminoacidopathies http://grants.nih.gov/grants/guide/notice-files/not93-221.html

Return to 1993 Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

51. Genetic Disorders chromosomal disorders. Genetic disorders may also be caused by problemswith the foetus's chromosomes. There are many chromosomal disorders. http://www.bsrt.org.uk/genetic_disorders.htm

The Genetic Code Genetic Disorders Dominant Gene Disorders Recessive Gene Disorders. Batten Disease/JNCL Fall's into this category X-Linked Gene Disorders Chromosomal Disorders Multifactorial Disorders Other Defects ... Glossary Genetics The Genetic Code: Genetic Disorders: Genetic disorders may be caused by problems with either genes or chromosomes. A person may have a genetic disorder that may not be visible or may carry a disorder without knowing it. Some disorders can be inherited if only one parent carries the gene. Some occur at random. Even if a couple has had a normal baby, if they are at risk for having a baby with a genetic disorder, they are at risk with each pregnancy. Dominant Gene Disorders A dominant genetic disorder can be caused by a single abnormal gene from either parent. Even though one member of the gene pair is normal, the abnormal gene overrules the normal gene, or is dominant. Some of these disorders are: · If one parent has a dominant gene disorder, there is a 50% chance that it will be passed to each child.

52. Chromosomes And Karyotyping Chromosomes and Karyotyping DNA structure and chromosomal disordersDNA and Chromosomes ƒÒ All living organisms are made of cells. http://sefrench03.tripod.com/Karyotype.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Chromosomes and Karyotyping DNA and Chromosomes ƒÒ All living organisms are made of cells. ƒÒ In eukaryotes, DNA is in nucleus and is organized into chromosomes. ƒÒ Chromosomes become particularly visible during cell division, such as mitosis. ƒÒ In prokaryotes, DNA is a circular strand and there is no nucleus. Gene? Gene who? ƒÒ Portions of DNA are coding sections and are called genes. ƒÒ However, many sections of DNA do not code for anything. ƒÒ Along the length of each chromosome are thousands of genes. ƒÒ Humans have 23 pairs of chromosomes (46 total) and tens of thousands of genes. Diploid versus Haploid Cells ƒÒ In animals, most cells are diploid, meaning that the cell has two copies of each chromosomes. ƒÒ Gametes (sperm/egg) are haploid, having only one copy of each chromosome. ƒÒ In humans, diploid cells have 46 chromosomes. ƒÒ Haploid human cells only have 23. Karyotypes and more ƒÒ The arrangement of chromosomes in a manner that allows us to count and identify them is called karyotyping. ƒÒ This procedure is done on embryonic material collected from amniocentesis, etc.

53. - WHO - Online BookShop Chapters in part two assess the epidemiological situation in Eastern Mediterraneancountries for congenital malformation and chromosomal disorders, single gene http://www.who.int/dsa/cat98/gene8.htm

Home Search Just published Subscriptions ... Sales agents Quick search Book of the Month Summary Measures of Population Health Concepts, Ethics, Measurement and Applications With increasing life expectancy, measuring population health levels on the basis of mortality rates alone has become less and less relevant in many populations. At the same time, societies invest substantial resources in promoting healthy life, in addition to preventing premature death. But ... Pages: 798 Price: Swiss Francs: 50.00 / US $ 45.00 More information... News Marketing and Dissemination Activities Forthcoming key titles: World Report on Cancer World Cancer Report provides a unique global view on cancer. Launch date 3 April. MONICA Monographs and Multimedia Sourcebook Describes the largest and longest research project ever undertaken on myocardial infarction and stroke. Manual of Basic Techniques for a Health Laboratory. 2nd Edition

54. Genetic Disorders [MT Dorak] Other genetic disorders chromosomal disorders, DNA repair defects (xerodermapigmentosum, ataxia telangiectasia, Bloom's syndrome, Fanconi's anemia). http://home.att.net/~dorak/genetics/notes05.html

Back to Contents Glossary Back to Evolution Back to HLA ... Homepage GENETIC DISORDERS M.Tevfik Dorak, MD, PhD Mirror Site (more permanent address) It is correct that more than 4500 inherited genetic diseases are known (see Mendelian Inheritance Website and NCBI ) but still only 2% of human diseases can be attributed to primarily genetic causes. We each inherit hundreds of genetic mutations from our parents, as they did from their forebears. In addition, the DNA in our own cells undergoes an estimated 30 new mutations during our lifetime, either through mistakes during DNA copying or cell division or, more often, because of damage from the environment. Because most of these are in somatic cells, they are not passed on to the next generation. It is also estimated that each human being is a carrier of around five recessive lethal genes. Examples of genetic disorders Single-gene disorders (autosomal or sex-linked) : Cystic fibrosis (in the most frequent mutation, the 1480 amino acid-long wild protein is missing a phenylalanine at position 508 and becomes 1479 amino acid-long, however, more than 30 mutations causing a defective protein have been identified), hereditary hemochromatosis (C282Y missense mutation: cysteine at position 282 is replaced by a tyrosine)

55. Islamset: Spectrum Of Genetic Disorders and mortality (14). These disease include the purely genetic disease, which maybe either single-gene disorders or chromosomal disorders, and multifactorial http://www.islamset.com/bioethics/genetics/El-hazmi1.html

Home Bioethics Genetic Engineering, Human Genes SPECTRUM OF GENETIC DISORDERS AND THE IMPACT ON HEALTH CARE DELIVERY: AN INTRODUCTION M.A.F. El-Hazmi SUMMARY Introduction Genetic diseases Genetic disease are a large group of disorders resulting from major or minor alterations (mutations) in the genetic component of cell,s i.e. DNA located in the nucleus or the mitochondria. These diseases can be grouped into: chromosomal disorders single-gene disorders multifactorial disorders mitochondrial disorders Chromosomal disorders Figure 1: Spectrum of diseases affecting humans Figure 2a: Chromosomal genetic disorders Single-gene disorders The recognition by Garrod of alkaptonuria as a genetic defect led to the discovery of a very large number of such conditions, which result from a mutation in or around a single gene [1,4,6,8,9]. Over 6000 such disorders have been identified and many more are expected to be unveiled since it is recognized that the total human genetic component carries between 50 000 and 100 000 structural genes. These disorders may be autosomal or sex-linked (i.e. Y-or X-linked), which may be either dominant or recessive [8]. They follow a very clear pedigree pattern of inheritance and examples of a few of these disorders with the approximate frequency are presented in Figures 2b and 2c. Multifactorial disorders

56. OBSTETRICS AND GYNECOLOGY-Objectives – 2001-2002 advanced maternal age. recessive chromosomal disorders. dominant chromosomaldisorders. balanced translocations. sexlinked chromosomal disorders. PAPP-A. http://www.unr.edu/med/dept/OBGYN/syllabus/OBGYNobjectives.html

Return to the Table of Contents OBSTETRICS AND GYNECOLOGY-Objectives – 2002-2003 Each objective consists of three parts: terms and definitions, clinical conditions- diagnosis and treatment, and operations and procedures. The topics may be learned in any order. It is suggested that the objectives for each topic be reviewed prior to the reading assignment. Subsequently they should be reviewed and knowledge of each of the items confirmed. These objectives are condensed from the latest edition of Medical Student Educational Objectives published by the Association of Professors of Gynecology and Obstetrics. I. ABNORMAL UTERINE BLEEDING Definitions and Terms adenomyosis anovulation carcinoma of the endometrium submucous myoma menorrhagia metrorrhagia hypermenorrhea polymenorrhea Clinical Conditions- Diagnosis and Treatment hematologic disorders complications of pregnancy leiomyomata uteri endometrial hyperplasia menopausal bleeding precocious puberty Operations and Procedures Dilatation and curettage endometrial biopsy endometrial aspiration hysteroscopy endometrial ablation saline infused sonography II. AMENORRHEA

57. Pediatric Links Handicapped Children; National Alliance for Autism Research. Returnto top of list. Genetic chromosomal disorders. Cystic Fibrosis http://www.neuropsychologycentral.com/interface/content/links/page_material/pedi

58. Medem: Medical Library: Genetic Disorders In Pregnancy chromosomal disorders Genetic disorders also may be caused by problemswith the fetus's chromosomes. Most are caused by an error http://www.medem.com/MedLB/article_detaillb.cfm?article_ID=ZZZ2JZPN97C&sub_cat=2

59. Genetic Disorders Ex. Diabetes, Hypertension; chromosomal disorders. abnormal chromosomeor wrong number of chromosomes. Can result from a cellular http://www.som.tulane.edu/departments/peds_respcare/genetic.htm

Genetic Disorders A review Causes Types of Defects Single Gene Defects Chromosomal defects ... Specific Syndromes Causes of Genetic Health Problems Inherited genetic diseases caused by abnormal groups of genes passed down from one generation to the next. Ex. CF, Phenylketonuria, and muscular dystrophy. Spontaneous Genetic mutations are caused by an error in DNA replication leading to a base substitution or an insertion or deletion of one or two base pairs from the DNA. Somatic genetic disease caused by the sudden appearance of an abnormal form of a gene in one part of the body. Ex. Cancer. Chromosomal Aberrations abnormalities of chromosomal structure. Ex. Down Syndrome. Types of Defects Genetic: caused by an abnormal gene or groups of genes. There are 3 types: Single mutant genes of large effect. (Mendelian disorders) Multifactorial inheritance: the defect is influence by genetic and environmental factors. Ex. Diabetes, Hypertension Chromosomal disorders. : abnormal chromosome or wrong number of chromosomes. Can result from a cellular "accident" or from a parent who carries a chromosomal aberration Congenital Defects: " born with" unusual growth or development.

60. Chromosomal Disroders Home (Karyotype Map) Genetic Disorders. Instructions. Storyboard. Gene Disorder Chromosome Maps.Chromosomal Disorder Karyotypes. chromosomal disorders. chromosomal disorders. http://k-12.pisd.edu/currInst/science/Genetic/Karyotype-Chrom-Disorders.htm

GENETIC DISORDERS Genetic Disorders Instructions Storyboard Gene Disorder Chromosome Maps ... Easy PowerPoint CHROMOSOMAL DISORDERS CHROMOSOMAL DISORDERS CHROMOSOMAL DELETIONS Monosomy 23 X - (X0) - Turner's Syndrome Partial Deletion of Upper Arm of Chromosome 5 - Cry of the Cat (Cri du Chat) CHROMOSOMAL ADDITIONS Trisomy 13 - Patau's Syndrome Trisomy 18 - Edward's Syndrome Trisomy 21 - Down Syndrome Trisomy 23 X - (XXY) Klinefelter's Syndrome ... Trisomy 23 Y - XYY Syndrome NORMAL HUMAN KARYOTYPE Karyotype of Normal Human Female Karyotype of Normal Human Male (Top of Page Genetic Disorders ... (Top of Page) SCOPE PROJECT 2000 Plano ISD - scope@pisd.edu (Top of Page)

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