41. Biocept Exhibits High-Performance Chromosomal Disorders Diagnostic At American S Biocept Exhibits HighPerformance chromosomal disorders Diagnosticat American Society of Hematology Meeting. CARLSBAD, Calif., Dec. http://www.forrelease.com/D20031201/nem033.P2.12012003143111.26618.html

ForRelease.com the archive Find more about: Anything Health Care/Hospitals Medical/Pharmaceuticals California Biocept, Inc. Trade show news OLDER OLDHREF = document.getElementById("OLDID").href; NEWER NEWHREF = document.getElementById("NEWID").href; Biocept Exhibits High-Performance Chromosomal Disorders Diagnostic at American Society of Hematology Meeting CARLSBAD, Calif., Dec. 1 /PRNewswire/ Biocept, Inc. will exhibit its high-performance 3D HydroArray Chromosomal Disorders Diagnostic at the American Society of Hematology Annual Meeting, Booth 1644, December 6-9 in San Diego. The pre-natal diagnostic, based on Biocept's proprietary 3D HydroArray Technology platform, will be a major advance over currently available alternatives. In-house test results to date indicate that it is: Comprehensive: Diagnosis of major aneuploid disorders and three important deletion disorders (DiGeorge, Cri-du-Chat and Williams- Beuren) Accurate: Results of testing to date demonstrate >99.5% sensitivity (virtually no false negatives) and >99.5% specificity (virtually no false positives) Fast: results within 24 hours of receipt of sample Cost Effective: Economics comparable to present methods Biocept is also studying the use of its broad-based diagnostic platform for separating fetal cells from maternal blood, enabling noninvasive chromosomal disorders testing in the first trimester. In addition, the company is developing an IDE (Investigational Device Exemption) for clinical study and approval of the 3D HydroArray Chromosomal Disorders Diagnostic.

42. 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;

43. Physicians Associating Chromosomal Disorders With Diabetes, Osteoporosis Two common chromosomal disorders, Klinefelter s and Turner s Syndrome, that causesterility are increasingly being associated with other endocrinerelated http://www.aace.com/pub/press/releases/2002/index.php?r=20020501-12

44. Chromosomal Diseases Places to start searching Diseases, Support Groups and Patient Information Down sSyndrome chromosomal disorders Background Information Detailed information on http://health-megasite.com/articles/13/chromosomal-diseases.html

Click here to find out everything that you could ever want to know about chromosomal diseases , there is more information here than you ever dreamed of Sponsored Links chromosomal diseases Here are some more sites that may be of interest: Title: Congenital, Hereditary, and Neonatal Diseases and Abnormalities http://www.mic.ki.se/Diseases/c16.html Description: ... Development Projects print this page Diseases and Disorders - Links pertaining to Congenital ... Disorders - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Costello Syndrome ... Title: Immunologic Diseases http://www.ohsu.edu/cliniweb/C20/C20.html Description: Immunologic Diseases Back to previous level Autoimmune Diseases [25 more specific term/s, 114 ... Coll. of Wisconsin Immunodeficiency due to chromosomal defects: Amer. Coll. of Allergy, Asthma ... Title: Human Diseases http://www.hgmp.mrc.ac.uk/GenomeWeb/diseases.html

45. Biocept Develops Comprehensive, High-Performance Chromosomal Disorder Diagn... Biocept Develops Comprehensive, HighPerformance Chromosomal Disorder DiagnosticCARLSBAD, Calif., Oct. chromosomal disorders occur in 0.7% of live births. http://links.biospace.com/news_story.cfm?StoryID=14135120&full=1

46. University Of Pennsylvania: School Of Veterinary Medicine - Department Of Clinic Some sex developmentaland other disorders may be caused by chromosomal abnormalities ....... Karyotyping for chromosomal disorders http://www.vet.upenn.edu/research/centers/penngen/services/cytogeneticslab/karyo

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

47. Down Syndrome Trisomy 21 Chromosomal Disorders - Karyotype Maps TRISOMY 21 DOWN SYNDROME Chromosomal Disorder. Trisomy 21 Down Syndrome ChromosomalAddition. RIGHT click on the chromosome to get Save Image As choice. http://k-12.pisd.edu/currInst/science/Genetic/Karyo-tri21.htm

GENETIC DISORDERS Genetic Disorders Instructions Storyboard Gene Disorder Chromosome Maps ... Easy PowerPoint TRISOMY 21 DOWN SYNDROME Chromosomal Disorder Trisomy 21 Down 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. Down Syndrome Trisomy of Chromosome HUMAN KARYOTYPE SHOWING TRISOMY OF CHROMOSOME 21 (Link to Normal Karyotype (Top of Page Genetic Disorders Instructions ... (Top of Page) SCOPE PROJECT 2000 Plano ISD - scope@pisd.edu (Top of Page)

48. Turner Syndrome Monosomy 23 (X0) Chromosomal Disorders - Karyotype Maps MONOSOMY 23 (X0) TURNER SYNDROME Chromosomal Disorder. Monosomy 23 TurnerSyndrome Chromosomal Deletion. RIGHT click on the chromosome http://k-12.pisd.edu/currInst/science/Genetic/karyo-turn-x0.htm

GENETIC DISORDERS Genetic Disorders Instructions Storyboard Gene Disorder Chromosome Maps ... Easy PowerPoint MONOSOMY 23 TURNER SYNDROME Chromosomal Disorder Monosomy 23 Turner Syndrome Chromosomal Deletion 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. Turner Syndrome Monosomy of X Chromosome Having only 1 X chromosome in 23rd pair HUMAN KARYOTYPE SHOWING MONOSOMY OF CHROMOSOME 23 (Link to Normal Karyotype (Top of Page Genetic Disorders Instructions ... (Top of Page) SCOPE PROJECT 2000 Plano ISD - scope@pisd.edu (Top of Page)

49. Distribution Of Mouse Models For Chromosomal Disorders Request - The Jackson Lab National Institutes of Health National Institute of Child Health and Human DevelopmentDistribution of Mouse Models for chromosomal disorders Request for 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

50. Types Of Genetic Disorders Patterns of inheritance are grouped into several categories chromosomal disorders,chromosomal disorders are studied using the methods of cytogenetics. http://www.uic.edu/nursing/genetics/Lecture/Types/types.htm

Home About the Course Lecture Case Stud y Index Glossary References To all who access this page: Please be aware that this course is a work in progress and content may change on a daily basis. Although we feel the information is correct and current we can not guarantee the content until the course is completed. Please feel free to contact the webmaster with any comments, and how you "found" this course. Thank you for your consideration. LECTURE This lecture on Types of Genetic Disorders should be completed before one proceeds to the discussion of specific diseases. Each link on the page below will take you to a portion of this lecture. Please follow each link to fully complete this segment of the course. A link to evaluation questions can be found at the bottom of this page. PEDIGREES AND GENOGRAMS Through the study of human pedigrees, it was discovered that different diseases have different characteristic patterns of inheritance. Genograms, in addition to medical information, provide qualitative information about the relationships and functioning of a family. Constructing and analyzing pedigrees and genograms is an important part of medical genetics. All health professionals should feel comfortable utilizing and applying pedigrees and genograms to elucidate a family history, assess the recurrence risk for a genetic disorder, and gain an understanding of the family context in which their patients live. Patterns of inheritance are grouped into several categories:

51. Special Needs Kids chromosomal disorders. Chromosome 19 is the chromosome that caused my son scondition. Researching chromosomal disorders is HARD, belive me! http://www.angelfire.com/tx/babyguardianangels/page7.html

var cm_role = "live" var cm_host = "angelfire.lycos.com" var cm_taxid = "/memberembedded" Parents with special needs children have special needs themselves. They need support that usually is difficult to find. I will try to put as many links to special needs sites as I can find. Please feel free to mail me any sites that you may have that are not listed in my links. Prayer Requests Submit Prayer Requests for sick, chronic, critical, and terminal children. You may follow the praying hands to submit a webpage of a child that is in need of our prayers, or go to the message forum to submit prayers on the board for children that do not have webpages. WebTV and Lower Browsers , please use this link to submit prayer requests for children. Thanks and God Bless. Interactive Stories Would any of your children enjoy being able to write into an interactive story along with other special needs children? I've made a Story Book For Special Needs Children especially for the kids. A story book for the parents can be found HERE.

52. CBT Program CBT Program. Name chromosomal disorders, Version Subject Chromosomaldisorders, Profession Genetics. Author Dr JHM van der Straaten, http://www.medfac.leidenuniv.nl/nvmo/lessons/uk_lesson_488.html

CBT Program Name: Chromosomal disorders Version: Subject: Chromosomal disorders Profession: Genetics Author: Dr J.H.M. van der Straaten University: University of Nijmegen Teacher: Dr F.P.M. Cremers Stage: Clinical Lesson time: Description: With family trees some frequently occuring diseases are shown in this programm. The student learns about the type and frequency of inheritance of the disease. Hardware: IBM pentium, 64 Mb internal memory; videocard: Millennium II 8Mb Screenresolution: 1024x768 Platform: Windows 95 Price: Contactperson: Dr. L.G. Poels Only for information about Computer Based Training Telephone: Address: PB 9101 Nijmegen 6500 HB Comments to webmaster NVMO CBT homepages Last revision 04/21/2004 0:00:55

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

TESTS Test not listed? A/G Ratio ACE ACT ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldosterone Allergies ALP Alpha-1 Antitrypsin ALT Amylase ANA Antibody Tests Apo A Apo B ApoE Genotyping aPTT AST Autoantibodies Bilirubin Blood Culture Blood Gases Blood Smear BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcium Cardiac Risk CBC CEA Celiac Disease Tests CF Gene Mutation Chlamydia Chloride Cholesterol CK CK-MB CMP CMV Coagulation Factors Complement Levels Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity Cystatin C D-dimer DHEAS Differential DLDL EGFR Electrolytes Electrophoresis ESR Estrogen Estrogen Receptors Factor V Leiden Fecal Occult Blood Ferritin fFN Fibrinogen Flu Tests Folate Fructosamine FSH Genotypic Resistance GFR GGT Glucose Gonorrhea Gram Stain Growth Hormone H-pylori hCG HDL Hematocrit Hemoglobin Hemoglobin Variants Hepatitis A Hepatitis B Hepatitis C Her-2/neu Herpes HIV Antibody HLA-B27 Home Tests Homocysteine HPV hs-CRP IGF-1

54. Gerhard Leyendecker III.1. Introduction to chromosomal disorders. chromosomal disordersare not a rare occurrence. In the majority of cases they lead http://www.ferticon.de/text.php3?artikel=6&seq=19&la=en

55. Gerhard Leyendecker III. Evaluation of risks related to chromosomal disorders. III.1. Introductionto chromosomal disorders. chromosomal disorders are not a rare occurrence. http://www.ferticon.de/text.php3?artikel=6&seq=18&la=en

56. Amenorrhea can be caused by a hormonal problem; a birth defect in which the vagina, uterus,or fallopian tubes don t develop normally; or by chromosomal disorders. http://www.hmc.psu.edu/healthinfo/a/amenorrhea.htm

57. Prenatal Tests chromosomal disorders Some chromosomal disorders are inherited, but mostare caused by a sporadic error in the genetics of the egg or sperm. http://kidshealth.org/parent/system/medical/prenatal_tests_p2.html

KidsHealth Parents What Do Prenatal Tests Find? Among other things, routine prenatal tests can determine key things about the mother's health including her blood type, whether she suffers from gestational diabetes , her immunity to certain diseases, and whether she has a sexually transmitted disease (STD) or cervical cancer. All of these conditions can affect the health of the fetus. Prenatal tests also can determine things about the fetus' health including whether it's one of the 2% to 3% of babies in the United States that the American College of Obstetricians and Gynecologists (ACOG) says have major congenital birth defects. There are different categories of defects screened by prenatal tests, including: Dominant gene disorders In dominant gene disorders, there's a 50-50 chance a child will inherit the gene from the affected parent and have the disorder. Dominant gene disorders include: achondroplasia , a rare abnormality of the skeleton causing shorter-than-normal arms and legs Huntingdon disease , a disease of the nervous system that causes neurologic deterioration affecting people in their 30s and 40s Recessive gene disorders Because there are so many genes in each cell, everyone carries some abnormal recessive genes, but most people don't have a defect because the normal gene overrules the abnormal one. But if a fetus has a pair of abnormal recessive genes (one from each parent), the child will have the disorder. It's more likely for this to happen in children born to certain ethnic groups or to parents who are blood relatives. Recessive gene disorders include:

58. 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.

59. Testing For Genetic Disorders In conditions like Down syndrome, an extra chromosome is present.In other chromosomal disorders a chromosome may be missing. It http://womenshealth.aetna.com/WH/ihtWH/r.WSIHW000/st.36127/t.36375.html

Testing For Genetic Disorders Maternal Serum Screening Amniocentesis Chorionic Villus Sampling A variety of prenatal tests have been developed to help diagnose or determine your chance of having a pregnancy affected by certain birth defects and/or genetic (inherited) disorders. All women are routinely offered some of these tests (serum screening, ultrasound). Your obstetrical care provider may recommend other tests based on your medical history or results from other routine tests. It is important to fully discuss the benefits and risks of these tests with your obstetrical care provider, who can counsel you on which ones may be appropriate in your case. Maternal Serum Screening Back To Top Amniocentesis Amniocentesis is usually performed between 14 and 18 weeks of pregnancy to detect chromosomal abnormalities. For this test, a needle is inserted into the uterus through the abdominal wall to retrieve a sample of the amniotic fluid that surrounds the fetus. Analysis of this fluid can provide information about the baby by counting the chromosomes and, if indicated, testing them for certain genetic defects. Amniocentesis is often considered for women who will be age 35 (or older) at the time of delivery, because the risk of Down syndrome at this age is approximately as high as the risk of the amniocentesis itself. Amniocentesis carries a small risk of causing miscarriage, so the test is generally performed only if an increased risk of age or other factors suggests that it is medically indicated.

60. Pathobiology Genetics chromosomal disorders (Genetic Markers, Heredity and Disease, Heritable,Heterozygous, Homozygous, Inheritance chromosomal disorders. http://icarus.med.utoronto.ca/meaghan2/JuHo/Pathobiology/PBL_show.asp?week_s=9&c

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