61. Home IKAKORIS WWFFL Chromosome Disorders MUMS Parent to Parent Network Chromosomal Deletion Outreach(CDO) UNIQUE Rare chromosomal disorders Support Group Support Groups for http://www.abo.fi/~plingenf/chromeplinks.html

Chromosome Deletion and Epilepsy Links Chromosome Disorders MUMS Parent to Parent Network Chromosomal Deletion Outreach (CDO) UNIQUE: Rare Chromosomal Disorders Support Group Support Groups for Chromosomal Conditions ... Rare Genetic Diseases in Children: Chromosomal Disorders Forum Epilepsy Links Epilepsy in Young Children Epilepsy in Young Children Egroup Parents' Epilepsy Support Group Parents' Epilepsy Support Group Yahoo site ... Parker-Davis Epilepsy Evaluation and Treatment Brochure Support and Parent-to-Parent Programs Family Village Disability Links Family Village - National Parent-to-Parent Programs Special Child Parent-to-Parent Matching Bulletin Board Parent to Parent New Zealand ... Parents Helping Parents

62. Obstetrics And Gynaecology Patient referrals for PGD are received from all parts of the UK and abroadfor a wide variety of single gene and chromosomal disorders. http://www.ucl.ac.uk/obstetrics-gynaecology/Research/research_joy.htm

Home Research Human Genetics and Embryology Research Group Professor Joy Delhanty Dr Joyce Harper Dr Radma Mahmood and Dr Dagan Wells The Human Genetics and Embryology Research Group focuses on research at the preimplantation stage of embryonic development and during gametogenesis. The Group is also responsible for preimplantation genetic diagnosis (PGD) carried out t the recently established UCL Centre for PGD. Patient referrals for PGD are received from all parts of the UK and abroad for a wide variety of single gene and chromosomal disorders. Current research interests include: Further development of novel PGD techniques for an increasing range of single gene and chromosomal disorders Investigation of the origin, extent and significance of chromosomal mosaicism in the human embryo from early cleavage through to blastocyst stage Patterns of gene expression in the preimplantation embryo Mechanisms of aneuploidy induction in human oogenesis Meiotic outcome in female carriers of chromosomal rearrangements Multiplex analysis of genetic and chromosomal disorders within a single cell following whole genome amplification Developmental timing and dynamics of triplet repeat expansion in fragile X and myotonic dystrophy.

63. Genetic Causes Of Mental Retardation chromosomal disorders affect approximately 7 out of every 1,000 infants.The Most chromosomal disorders happen sporadically. They 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?

64. Jhupbooks.com | Genetic Disorders And The Fetus | Preface To The Fourth Edition The most comprehensive analysis of prenatal diagnosis for chromosomal disordersis provided, along with the most recent data concerning the followup of http://www.press.jhu.edu/press/books/titles/sampler/milunsky.htm

Navigate Our Site... -THE PRESS The Press Our Staff Rights and Permissions The University -BOOKS Regional Interest Medicine and Science History and Social Science Literature and the Arts Media Center Author Events Schedule Advanced Search What's New Class Use Ordering Submission Guidelines Publicity ePublishing nycbks.com -JOURNALS Search Subscribe What's New Special Offers Special Issues Publishing Services Testimonials Contact List Advertising -PROJECT MUSE Project Muse from Genetic Disorders and the Fetus Diagnosis, Prevention, and Treatment edited by Aubrey Milunsky Back to complete list of excerpts Preface to the Fourth Edition Prenatal genetic diagnosis at the turn of the millenium and for many years thereafter will continue to focus on the wishes of all couples to have a healthy child. The past 30 years have seen the scope of prenatal diagnosis increase from routine to predictive diagnosis, more recently of disorders that will manifest decades after birth. The range of disorders detected includes those that are ultimately serious and/or fatal and of all systems, especially neurologic, cardiovascular, renal, gastrointestinal, and connective tissue. Potential cancers of various types will rank among the possible prenatal predictive diagnoses. The development of molecular approaches to the detection of susceptibility genes will continue for specific malformations as well as later-onset disorders. Since the mid-1960s, steady progress in prenatal diagnosis has depended on basic research in many disciplines. Early attention first focused on the safety of amniocentesis and the ability to reliably cultivate amniotic fluid cells and process them for chromosomal and biochemical analyses. Pari passu improvements in the visualization of fetal anatomy by ultrasound imaging vastly improved procedural safety, optimal sampling of anmiotic fluid, and diagnosis of malformations. Higher resolution chromosomal analysis, newer staining techniques, and the more recent introduction of fluorescent in situ hybridization significantly increased the sophistication of cytogenetic study. Most recently, and still to be applied in the prenatal diagnostic arena, is sprectral karyotyping.

65. Pregnancy Genetic testing may also determine if there are chromosomal disorders. Chromosomaldisorders may or may not be an inherited condition. Prev Next . http://www.labtestsonline.org/understanding/conditions/pregnancy-10.html

TESTS test not listed? ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldosterone Allergies ALP ALT Amylase ANA Antibody Tests Apo A Apo B ApoE Genotyping AST Bilirubin Blood Culture Blood Gases BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcium Cardiac Risk CBC CEA CF Gene Mutation Chlamydia Chloride Cholesterol CK CK-MB CMP Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity Cystatin C DHEAS Differential EGFR Electrolytes ESR Estrogen Estrogen Receptors Fecal Occult Blood Ferritin Flu Tests FSH Genotypic Resistance GFR GGT Glucose Gonorrhea Gram Stain Growth Hormone hCG HDL Hematocrit Hemoglobin Hepatitis A Hepatitis B Hepatitis C Her-2/neu Herpes HIV Antibody Home Tests Homocysteine HPV H-pylori hs-CRP Insulin Iron Tests LD LDH LDL Lead LH Lipase Lipid Profile Liver Panel Lp(a) Lyme Disease Magnesium Microalbumin Mono Monoclonal Protein Myoglobin Pap Smear Phosphorus Platelets Potassium Prealbumin Progesterone Progest. Receptors Prolactin PSA PT PTH Red Count Renin Rheumatoid Factor Rubella Semen Analysis Serum Iron Sickle Cell Sodium Strep Throat Sweat Chloride Syphilis Tau/Aß42 TB Skin Test Testosterone Ther. Drug Monitoring

66. Favourite Links Genetic Links Cytogenetics and chromosomal disorders Information about cytogeneticsand chromosomal disorders is presented, along with more advanced http://www.medgen.ubc.ca/wrobinson/mosaic/links.htm

Resources FAVOURITE LINKS Links Research Tools OMIM (Online Mendelian Inheritance in Man) - This database is a catalogue of human genes and genetic disorders. PubMed - a service of the National Library of Medicine, provides access to over 11 million citations from MEDLINE and additional life science journals. PubMed includes links to many sites providing full text articles and other related resources. Ongoing Research Projects Robinson lab (Vancouver) - For patients wanting to participate in research. Download patient consent forms and clinical data sheets. Support groups FAQs References Genetics Clinics Genetic Education Cytogenetics Gallery - The purpose of this Cytogenetics Gallery is to give users the opportunity to see what chromosomes look like under the microscope and how abnormalities of chromosomes are identified. Cytogenetic resources - A list of resources from Medical Genetics, University of Kansas Medical Center DNA Learning Centre - A source for timely information about genes in education. Genetic and Rare Conditions Site - Lay Advocacy Groups, Support Groups, Information on Genetic Conditions and Birth Defects for Professionals, Educators and Individuals. Provided by Medical Genetics, University of Kansas Medical Center.

67. Genetic Disorders eg familial disorders such as cystic fibrosis, muscular dystrophy, hemophilia, sicklecell anemia, TaySachs Disease or chromosomal disorders, the most common http://www.hygeia.org/poems2.htm

Genetic Disorders Vol.1 No.2 This month, I will discuss chromosomal abnormalities as they account for nearly 15 per cent of mid-trimester pregnancy losses. Fortunately, there exists for all pregnant women an opportunity for a comprehensive prenatal evaluation of their fetus for the purpose of determining genetic and morphologic[structural] normalcy. Although it is not considered mandatory or routine, women at risk for fetal problems may avail themselves to several testing procedures as well as be offered screening procedures. Because some tests are invasive e.g.. amniocentesis, CVS, fetal blood sampling and direct fetal visualization (fetoscopy,) it is important for the patient and her physician to have a clear understanding of what information is to be ascertained from a particular test, its risks and its limitations. Other tests such as blood screening and high resolution ultrasound are less invasive. With these guidelines well defined, the prenatal diagnosis of fetal abnormalities becomes an important tool in the contemporary care of pregnancy. Pre-pregnancy counseling is very important, and women should consult their physician or other primary caregiver prior to conception, or at least very early in the first trimester, so as to determine any risk factors for genetic diseases; e.g. familial disorders such as cystic fibrosis, muscular dystrophy, hemophilia, sickle cell anemia, Tay-Sachs Disease or chromosomal disorders, the most common being Down's Syndrome or Trisomy 21.

68. HealthyMe.md - Today's Link For A Healthier You - Pregnancy In Your 30s And Beyo Please note that 70% of all children born with chromosomal disorders areborn to women under 30. Sometimes these disorders are genetically http://www.healthyme.md/viewArticle?ID=9798

69. CyberSpace Search! SEARCH THE WEB. Results 1 through 1 of 1 for chromosomal disorders. http://www.cyberspace.com/cgi-bin/cs_search.cgi?Terms=chromosomal disorders

70. The Growing Hand | Table Of Contents III. SECTION 5 chromosomal disorders/DUSPLASIAS/DYSOSTOSES. Hand andUpperextremity chromosomal disorders - Denis L. Viljoen; Skeletal http://www.cmki.org/about/GHtoc.cfm

Christine M. Kleinert Institute for Hand and Microsurgery Home About Fellowships at CMKI ... Guestbook About the site TABLE OF CONTENTS: The Growing Hand edited by Amit Gupta, Simon P. J. Kay, and Luis R. Scheker SECTION 1: PROLEGOMENA Evolution of the Human Hand - Ronald L. Linscheid Genetics and Hand Malformations - Joseph Hersh Psychology - Eileen Bradbury SECTION 2: BIRTH, GROWTH AND DEVELOPMENT Embryology - Cheryl Tickle Tissue Differentiation of the Upper Extremity - Ellen Beatty Developmental Skeletogenesis - A. Hari Reddi Development and Maturation of the Nervous System - Vasudeva G. Iyer Biology of Postnatal Limb Growth - Andrew Roberts and Brian Ashton Normal Radiologic Variants and Skeletal Maturation - Christine M. Hall and Donald G. Shaw The Gradual Unfolding: from Infancy to Adolescence - Judith A. Axelrod Functional Development of the Hand - Rhoda P. Erhardt and Sheila G. Lindley SECTION 3: ESSENTIALS Talking with Parents and Children - Simon P.J. Kay and Eileen Bradbury Imaging the Upper Extremity - Robert L. Falk Electrodiagnostic Evaluation of Pediatric Patients - Vasudeva G. Iyer

71. MEDICAL ARTICLES FS Priority Journals EM 7603 AB Data from the world literature about the pathologyof the urinary system in autosomal chromosomal disorders are analyzed and http://www.4p-supportgroup.org/medical/4p_1975.htm

MEDICAL ARTICLES - 1975 Last modified 10 October 1999 Translocation 4p syndrome: a general review Centerwall, Willard; Thompson, William; Allen, Irving; Fobes, Clark Am J Dis Child 1975: 129:366-370 The case presented here may be the first fully identified and verified case of translocation 4p syndrome, a B4/G22 translocation, ie, 45,XX,-4,-22,+t(4q22q). Thirty-nine other cases of the 4psyndrome, including one other possible translocation case, have been found in the medical literature. Conventional chromosome studies cannot distinguish between 4p (Wolf) syndrome and 5p (cri-du-chat) syndrome, and the clinical features, as in our case, may not be sufficiently characteristic to permit differentiation. The newer chromosome banding techniques have made specific identification possible. A case of trisomy of the short arms of chromosome no. 4 with translocation t(4p 21p; 4q 21q) in the mother Humangenetik 1975: 26: 87-91 4p- phenotype in an infant with t(4p-;19p or q+)mat translocation Am J Dis Child 1975: 129: 363-5 Four family members had an apparently balanced t(4p-;19p or q+) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."

72. Resource Center ~ Medical & Scientific Information chromosomal disorders Rainbows Down Under (homepages.tig.com.au/~karens/) A sitededicated to families and precious children everywhere who are affected by http://www.honoredbabies.org/resource-center/medical.htm

... women helping women ... learn more about the book Honored Babies and purchase your copy submit your story for future volumes separate email lists for Mothers, Grandmothers, Fathers, and Siblings Grief Support, Suicide, Personal Pages, Books, Medical Info, Classifieds, Advocacy, Vote, Web Site Hosts, Chat Room, Greeting Cards, Graphics, Honored Sites, Awards, Supporters, Members, Add A Link read . submit yours read old guestbook (no new entries can be posted) volunteers and their responsibilities; see how you can help Paula Long 5309 Thornwood Circle Dickinson, Texas 77539 AOL Instant Messenger HonoredBabies email Submit a Medical and/or Scientific Site Miscarriage Medical Self-Assessement (www.healthbridge.co.uk) A new site for medical students, residents and health care workers that can evaluate their medical knowledge, several links and general information. [My Note: If you click on "Lancet," you can search for journal articles on any subject you desire using keywords.] [added 9/1/00] Potter's Syndrome Potter Syndrome (www.adam.com/ency/article/001268.htm)

73. FAQ From Agenus.com 3) What are Genetic Diseases? a) Single Gene Disorders b) chromosomal disordersc) Multifactorial Disorders 4) Why do a Family Health History? http://www.agenus.com/ClassA/AGFAQ.CFM

74. June 96, Screen 2 Since then, many other clinical syndromes associated with chromosomaldisorders have been recognized. Frequency of chromosomal disorders. http://www.wisc.edu/wissp/wisspers/jun96001.htm

In Depth Chromosomes and Stillbirth: Introduction to Cytogenetics Richard M. Pauli, M.D., Ph.D. Note: This is the first part of a two part article concerning chromosomal evaluation following intrauterine death. Here we will summarize basic information concerning chromosomes, techniques of chromosomal analysis and chromosomal aberrations. In the next issue of WiSSPers the more specific topic of chromosomal aberrations as a cause of stillbirth will be addressed. Introduction and history Human chromosomes and their behavior. It was not until 1956 that improved techniques allowed scientists to establish that the normal number of human chromosomes is 46. Only three years later, the first association between a chromosomal abnormality and a clinical disorder was reported when LeJeune discovered the presence of an extra chromosome in children with Down syndrome. Since then, many other clinical syndromes associated with chromosomal disorders have been recognized. Because structural or numerical chromosome aberrations usually involve large numbers of genes, they tend to result in multiple, severe abnormalities affecting many organ systems. Often these abnormalities are sufficiently severe to cause death, either in utero or shortly after birth. Typically the chromosome complement of each human cell is 46, comprising 23 pairs. These are made up of twenty-two identical pairs (called autosomes) and, in addition, two sex chromosomes (two X chromosomes in females and an X and a Y chromosome in males). Microscopic photographs of prepared human chromosomes can be cut up so that the chromosomes are, for convenience, arranged in order of decreasing size and organized into subgroups based on both size and shape (Figure 1).

75. Glossary - Lucile Packard Children's Hospital Abnormal levels of alphafetoprotein may indicate brain or spinal cord defects,multiple fetuses, a miscalculated due date, or chromosomal disorders. http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/pregnant/glossary.html

Critical Care Transport Services Metabolic/Biochemical Genetics Clinic Pregnancy Services Medical Geneticists ... The Role of Grandparents in a Child's Life Glossary A alpha-fetoprotein - a protein produced by the fetus that is excreted into the amniotic fluid. Abnormal levels of alpha-fetoprotein may indicate brain or spinal cord defects, multiple fetuses, a miscalculated due date, or chromosomal disorders. amniocentesis - a test performed to determine chromosomal and genetic disorders and certain birth defects. The test involves inserting a needle through the abdominal and uterine wall into the amniotic sac to retrieve a sample of amniotic fluid. amniotic sac - a thin-walled sac that surrounds the fetus during pregnancy. The sac is filled with amniotic fluid - liquid made by the fetus and the amnion (the membrane that covers the fetal side of the placenta) which protects the fetus from injury and helps to regulate the temperature of the fetus. anemia - a decrease of red blood cells in the blood.

76. RGI - History Nearly 400 unaffected children have already been born in approximately 2000 cyclesperformed for single gene and chromosomal disorders. Annual Meetings http://www.reproductivegenetics.com/history.php

History History of international working group on preimplantation genetics Established: September 16,1990 at the First International Symposium on Preimplantation Genetics, Chicago, September, 1990 Chairman: Yury Verlinsky Director of Reproductive Genetics Institute 2825 North Halsted St. Chicago, IL 60657 Fax: 773-871-5221 Steering Committee: Jacque Cohen (USA) Joy Delhanty (UK) Robert Edwards (UK) Luca Gianaroli (ITALY) Jamie Grifo (USA) Alan Handyside (UK) Anver Kuliev (USA) Santiago Munne (USA) Joe Leigh Simpson (USA) Charles Strom (USA) Alan Trounson (AUSTRALIA) Andre Van Steirteghem (Belgium) Objectives: Collect and distribute the information on the progress of centers involved and Preimplantation Genetics Diagnosis (PGD) and coordinate their activities Organize Annual Working Group meetings to steer up activities in the field Ensure coordination with other relevant research efforts Promote the implementation of accurate PGD technology available Organize conferences and symposia, as well as corresponding sessions on PGD in association with other related Congresses Overall PGD has been performed in over 40 centers around the world. Nearly 400 unaffected children have already been born in approximately 2000 cycles performed for single gene and chromosomal disorders.

77. Genetic Disorders and others. An extra or missing complete chromosome or a segmentof a chromosome causes chromosomal disorders. Down syndrome is http://www.healthri.org/genetics/disorders.htm

HEALTHri Rhode Island Department of Health Genetics Core Team 3 Capitol Hill, Providence, Rhode Island, 02908 Sharon Marable, MD, MPH Assistant Medical Director, Disease Prevention and Control Leonard Green, MPS Chief, Vital Records Genetics Homepage About Genetics Ethical Issues Genetic Counseling ... HEALTH Genetics Committees Rhode Island Department of Health Genetics Website Genetic Disorders The impact of genetic disease is often underestimated. Approximately 3 - 5 % of babies are born with a birth defect of chromosomal, gene or multifactorial origins. Children with genetic disorders account for almost 50% of all pediatric teaching hospital admissions and over 40% of childhood deaths. The list of illnesses that have significant genetic influence include many common adult disorders, including cancer, Alzheimer's disease Parkinson's disease , heart disease and diabetes . Thanks to advances in genetics, health professionals now have the tools to understand how certain health problems, or increased risks for certain illnesses, pass from generation to generation. Until recently, genetics played a relatively minor role in health care because most people were not affected by "traditional" genetic conditions. Genetic conditions can be caused by a mutation in a single gene, as in

78. VYSIS, INC. INTRODUCES NEW GENETIC TEST FOR ANALYZING CHROMOSOMAL DISORDERS BEFO develops, commercializes and markets clinical products providing information criticalto the evaluation and management of cancer, prenatal disorders and other http://www.vysis.com/whatsnew_pr9.asp

Contacts At the Company John L. Bishop Charlene Birkeland Versaggi Biocommunications Quick Jump Importance of HER-2 Genetic Analysis Advantages of Vysis FISH Technology VYSIS™, INC. FILES EUROPEAN MARKET SUBMISSION FOR BREAST CANCER TEST TO DETECT HER-2 GENE Test Aimed At Improved Therapy Selection and Patient Survival PARIS and DOWNERS GROVE, IL, September 10, 1998 - Vysis, Inc. (Nasdaq: VYSI) today announced it has filed an application with the Agence du Médicament (ADM) in France for registration of its PathVysion™ HER-2 DNA Probe Kit, a diagnostic test to detect and quantify the HER-2 gene in breast cancer patients. ADM registration in France will allow Vysis to market the product throughout Europe. Vysis filed for a pre-market approval (PMA) application with the U.S. Food and Drug Administration (FDA) last June. Recent studies have shown an abnormally high quantity (amplification) of the HER-2 gene is associated with the rapid growth of tumor cells, resistance to therapy, shorter disease-free survival and poor prognosis for women with this disease. Moreover, certain breast cancer treatments are more appropriate for patients when the gene is found to be amplified.

79. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso Categories. Cornelia De Lange Syndrome (4) Cri du Chat Syndrome (4)Down Syndrome (70) Fragile X Syndrome (14). PraderWilli Syndrome http://www.1uphealth.com/links/neurological-disorders-chromosomal.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Neurological Disorders : Chromosomal Description Categories Cornelia De Lange Syndrome Cri du Chat Syndrome Down Syndrome Fragile X Syndrome ... Williams Syndrome Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

80. LookSmart - Genetic Disorders And Chromosomal Conditions Genetic disorders and chromosomal Conditions Access resources on a wide varietyof genetic and chromosomal diseases and illnesses. Featured Sponsors. http://www.looksmart.com/eus317837/eus317920/eus53948/eus89791/r?l&

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