21. Frequency Of Chromosomal Disorders  Among Live Born Infants Frequency of chromosomal disorders Among Live Born Infants. Autosomal Abnormalities,Trisomy 21, 1 in 800. Trisomy 18, 1 in 5,000. Trisomy 13, 1 in 15,000. http://www.manbir-online.com/diseases/genetics.6.htm

Sorry, your browser doesn't suppor Java. Home Medi News Medical Tidbits Interesting Topics ... E Mail Frequency of Chromosomal disorders Among Live Born Infants Autosomal Abnormalities Trisomy 21 1 in 800 Trisomy 18 1 in 5,000 Trisomy 13 1 in 15,000 Sex Chromosomal Abnormalities Klinefelter Syndrome (47,XXY) 1 in 700 males XYY Syndrome (47,XYY) 1 in 800 males Turner Syndrome (45X or 45X/46XX or 45X/46XY 1 in 1500 females Triple X syndrome (47,XXX) 1 in 1000 females Y Chromosome Home Medi News Medical Tidbits ... E Mail

22. 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.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Birth_defects_inv

23. Chromosomal Disorders - General Practice Notebook chromosomal disorders. If mutations of genetic material are large enough to beseen under the light microscope, they are called chromosomal aberrations. http://www.gpnotebook.co.uk/cache/-1785069534.htm

chromosomal disorders If mutations of genetic material are large enough to be seen under the light microscope, they are called chromosomal aberrations. They can be divided into structural and numerical abnormalities. The smallest visible alteration to a chromosome that is visible is approximately four million base pairs. Chromosomal disorders are very common, affecting 7.5% of all conceptions, yet, due to spontaneous miscarriage, their livebirth frequency is only 0.6%. Hence, amongst spontaneous early miscarriages, 60% have a chromosomal abnormality, usually that of trisomy, 45,X, or triploidy. Disorders of this kind may result from germ cell mutations in the parent that have been passed on to sex chromosomes or autosomes in the affected individual. Alternatively, chromosomal aberrations may arise out of somatic mutation in the generation affected. Generally, autosomal chromosomal disruptions are more severe than sex chromosome abnormalities. Similarly, deletions are more deliterious than duplications. Click here for more information...

24. Chromosomal Disorders - General Practice Notebook chromosomal disorders. Medical search. If mutations of genetic materialare large enough to be seen under the light microscope, they http://www.gpnotebook.co.uk/medwebpage.cfm?ID=-1785069534

25. Can Changes In Chromosomes Cause Disorders? - Genetics Home Reference Conditions caused by a change in the number or structure of chromosomes are knownas chromosomal disorders. For more information about chromosomal disorders http://ghr.nlm.nih.gov/info=disorders/show/chromosomal_conditions

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Help Me Understand Genetics Table of Contents Chapter 2 Topics Next Topic Previous Topic Can changes in chromosomes cause disorders? Yes; changes that affect entire chromosomes or large segments of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many genes along the chromosome and alter the proteins made by those genes. Conditions caused by a change in the number or structure of chromosomes are known as chromosomal disorders. Many chromosomal disorders are not inherited. Chromosomal disorders can also be caused by changes in chromosome structure. These changes are caused by the breakage and reunion of chromosome segments when an egg or sperm cell is formed. Pieces of DNA can be rearranged within one chromosome, or transferred between two or more chromosomes. The effects of structural changes depend on their size and location. Some disorders caused by changes in chromosome structure can be passed from parent to child. For more information about chromosomal disorders: Chromosome Deletion Outreach offers a fact sheet on this topic titled Introduction to Chromosome Abnormalities Georgetown University's Human Genome Education Model Project II provides a fact sheet about chromosomal disorders and their causes.

26. Search Life expectancy of those with chromosomal disorders. The question thatyou raise is an important one that does not have a clear answer. http://www.chromodisorder.org/sytrix/card_list.php3?dbid=63&id=370

27. Chromosomal Disorder --  Britannica Concise Encyclopedia Online Article chromosomal disorder Britannica Concise. chromosomal disorders occur in 0.5% ofbirths; many can now be diagnosed before birth by amniocentesis. Back to Top. http://www.britannica.com/ebc/article?eu=386042&query=chromosome&ct=

28. Chromosomal Disorder --  Encyclopædia Britannica APA style Chromosomal Disorder. Also includes details related to genetic testingand counseling, familial Alzheimer s disease, and chromosomal disorders. http://www.britannica.com/eb/article?eu=84634&tocid=0&query=down syndrome

29. Chromosomal Disorders Information At MyFastSearch.com affordable chromosomal disorders resources from myFastSearch.com. chromosomal disordersweb resources at myFastSearch.com. Causes of chromosomal disorders. http://myfastsearch.com/search.php?keywords=chromosomal disorders

30. Healthinfo4u - Chromosomal Disorders Topic chromosomal disorders. Last Updated February 2003 Results 1 3 of 3. Help To order a article if you cannot view it now, please http://www.healthinfo4u.org/results_pages/Chromosomal_Disorders-1.html

Search Help Encyclopaedia About ... Home Topic: Chromosomal Disorders Last Updated: February 2003 Results 1 - 3 of 3 Help To order a article if you cannot view it now, please tick the check box next to the article you want and complete the form at the bottom of the page. To link to an article and view it immediately on the screen, you will need this password Order this article: Title: Rett syndrome and its effects on early development. (1st of 2 articles on genetic disorder that causes combined physical and learning disabilities. 17 refs). Author: Kerr, A; Burford, B. Source: Nurse 2 Nurse. 2002 Aug. 2(10). p45-6. Order this article: Title: What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study). Author: Abramsky, L; Hall, S; Levitan, J. Source: BMJ. 2001 24 Feb. 322(7284). p463-6. Order this article: Title: Diagnosis of fragile-X syndrome: the experience of parents Author: Carmichael B. Pembrey M. Turner G. Barnicoat A

31. White Matter Alterations Associated With Chromosomal Disorders White matter alterations associated with chromosomal disorders. 2004 Mar;46(3)14853White matter alterations associated with chromosomal disorders. http://www.find-health-articles.com/article-14995083-matter-alterations-associat

Home Contact Us Home Diabetes ... Travel White matter alterations associated with chromosomal disorders. Abstract Extract: White matter alterations in chromosomal disorders have been reported mainly in 18q-syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal abnormalities detected throug... Published 2004Mar in Journal: Dev Med Child Neurol (Language : eng) Full Pubmed Extract This information was retrieved, real-time, on your behalf from the public area of the Pubmed website: 1. Dev Med Child Neurol. 2004 Mar;46(3):148-53 White matter alterations associated with chromosomal disorders. Garc­a-Cazorla A, Sans A, Baquero M, Garc­a-Bargo MD, Arellano M, Poo P, Gean E, Campistol J Neuropaediatric Unit, Hospital Sant Joan de D©u, Barcelona, Spain. agarcia@hsjdbcn.org PMID : 14995083 [PubMed - Indexed for MEDLINE] Full Chemical List Full Author Information First Name LastName Initials Angels Garc­a-Cazorla A Anna Sans A Miguel Baquero M Mar­a Dolores Garc­a-Bargo MD Montse Arellano M Pilar Poo P Esther Gean E Jaume Campistol J Affiliation: Neuropaediatric Unit, Hospital Sant Joan de D©u, Barcelona, Spain. agarcia@hsjdbcn.org

32. Disorder Guide of Kansas Medical Center. Support Groups for chromosomal disorders. ChromosomeDeletion Outreach. Overview Chromosome Deletion Outreach http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/diseaseind

Human Genome Project Information Genomics:GTL Microbial Genome Program home The U.S. Department of Energy Biological and Environmental Research program funds this site. Genetic Disorder Information on the Web Information furnished by resources described in this guide should not be used as a substitute for consultation with a physician. Questions or concerns regarding a medical condition should be discussed with a professional, such as a physician, genetic counselor, or medical geneticist. This guide to genetic disorder resources includes portals that direct users to medical information produced and maintained by third-party sources. Even though some Web sites institute review and selection policies to regulate the quality of their links, users must be able to judge the legitimacy of material they encounter on the Web. See the Evaluation Guide for some tips and links to resources for evaluating Web sites. Types of resources described in this guide: Overviews of Genetic Disorders Gateways to Medical Information Support Groups and Organizations Bibliographic Databases ... Clinical Trials Resources See the Sample Profiles to access case studies that serve as examples of the kinds of information you can find using the resources described in this guide.

33. Media Psychedelic Psychedelics flashbacks and chromosomal disorders. Chromosomal defects and disordersIn the 1960 s, LSD was implicated in chromosome and birth defects. http://www.drugscope.org.uk/DS Media Project/media_psychedelic.htm

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34. Biocept - Next Generation Microarrays For Genomics And Proteomics 3D HydroArray Diagnostics chromosomal disorders Diagnostic. Chromosomaldisorders occur in 0.7% of live births. They increase in http://www.biocept.com/pro_diagnostic_chrom.html

3D HydroArray System and Components Theme 3D HydroArray Systems Custom 3D HydroArray Systems 3D HydroArray Diagnostics ... 3D HydroArray Diagnostics Chromosomal Disorders Diagnostic Chromosomal disorders occur in 0.7% of live births. They increase in frequency with advanced maternal age. For example, Down Syndrome occurs in about 1 in 100 births for women over 40. In 2000, the number of live births for women in this age group was nearly 100,000. American College of Obstetricians and Gynecologists (ACOG) guidelines call for prenatal testing when there is elevated risk of chromosomal disorders, which includes all pregnancies where the mother is over age 35. While several screening and diagnostic methods are available for chromosomal disorders, all have limitations. Screening methods are not definitive; they only identify biomarkers of a potential problem. Diagnostic tests use invasive sample collection methods that carry a small risk of miscarriage or injury to the fetus. Diagnostic tests include karyotyping and Fluorescence in situ Hybridization (FISH). Karyotyping offers 99.5% sensitivity and specificity in diagnosing aneuploid chromosomal disorders, but typically takes 7-14 days to complete. FISH offers 24-48 hour turnaround times for aneuploid disorders and 7-14 days for microdeletion disorders.

35. 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

Back to Monstrous Aliens Cryptids Death Demons ... Zombies 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: cystic fibrosis : a disease that causes the respiratory system to produce thick mucus that clogs the lungs sickle cell disease : a disease where red blood cells form a "sickle" shape, rather than the typical donut shape, get caught in blood vessels, and cut off oxygen to tissues

36. MALADIES CHROMOSOMIQUES - INDICATIONS DU CARYOTYPE chromosomal disorders KARYOTYPE INDICATIONS. In adulthood II-2.4. In the foetusII-2.5. Acquired diseases - cancerology. I-Constitutional chromosomal disorders. http://www.infobiogen.fr/services/chromcancer/IntroItems/IndicCaryo30043ES.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Tumors ... Teaching CHROMOSOMAL DISORDERS - KARYOTYPE INDICATIONS I-Constitutional chromosomal disorders I-1. Incidence I-2. Etiology I-2. 1. 1. Chromosomal factors I-2. 1. 2. Genetic factors I-2. 2. Parental age I-2. 3. Environmental factors II- Karyotype indications II-1. Synopsis II-1.1 Karyotype II-1.2 Fluorescent in situ hybrization (FISH) II-2. Indications II-2.1. Perinatal period II-2.1.1. Stillbirth II-2.1.2. Neonatal period II-2.1.2.1. triad :dysmorphism, malformation, neurological deficit II-2.1.2.2. ambiguous genitalia II-2.2. During infancy and adolescence II-2.3. In adulthood II-2.4. In the foetus II-2.5. Acquired diseases - cancerology I-Constitutional chromosomal disorders I-1 Incidence 6 for 1000 births gonosomal disorders:2/1000 ( of which 1,4/1000 have a male phenotype); trisomy 21: 1,5/1000; other unbalanced autosomal disorders: 0,5/ 1000; balanced chromosomal disorders with a normal phenotype 2/1000 among 1000 known pregnancies 150 will abort spontaneously: among them 100 have an abnormal chromosomal complement : 20 Turner syndrome, 20 trisomies 16 and 20 triploidies (more than 10% of each of those 3 syndromes are found among the spontaneous miscarriages); those figures exclude the undetected very early foetal losses (only one out of 2 conceptions would come to term). Humans would have the highest rate of abnormal gametes.

37. Amniocentesis- Medcohealth.com you selected Amniocentesis Detecting chromosomal disorders. SourceADAM, Inc. Updated December 2003. Amniocentesis. Definition. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Test

38. Nuchal Translucency Test A low risk cannot exclude Down Syndrome or other chromosomal disorders,as it is only a screening test, not a diagnostic test. In http://www.wcox.com.au/nuchal.htm

This test is done between 11 and 13 weeks of pregnancy. The aim of the test is to determine if you are at high risk of having a baby with a chromosomal abnormality. It does not diagnose an abnormality, it only finds those who are at high risk who may then opt for further testing. WHAT IS NUCHAL TRANSLUCENCY ? Fetal skin is very thin and fluid accumulates between the skin and the underlying structures. The amount of fluid depends on the size of the fetus and often disappears by 15 weeks. When the baby has a chromosomal disorder, this fluid tends to be increased. When it is measured by ultrasound it is called the nuchal (neck) translucency as it appears as a translucent space behind the neck. HOW IS IT MEASURED ? You must come with a full bladder for the scan. The fetus is measured and then particular care is taken to measure the Nuchal Translucency. In most cases this can be simply by an abdominal scan. In about 10% of cases a vaginal scan may also be required to obtain an accurate estimation. WHAT DOES AN INCREASED RISK MEAN?

39. 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

40. MSN Encarta - Genetic Disorders III. Types of Genetic Disorders. A. SingleGene Disorders. B. chromosomal disorders.C. Multifactorial Disorders. D. Mitochondrial Disorders. IV. Genetic Screening. http://encarta.msn.com/encyclopedia_761579600/Genetic_Disorders.html

MSN Home My MSN Hotmail Shopping ... Money Web Search: logoImg('http://sc.msn.com'); Encarta Subscriber Sign In Help Home ... Upgrade to Encarta Premium Search Encarta Subscription Article MSN Encarta Premium: Get this article, plus 60,000 other articles, an interactive atlas, dictionaries, thesaurus, articles from 100 leading magazines, homework tools, daily math help and more for $4.95/month or $29.95/year (plus applicable taxes.) Learn more. This article is exclusively available for MSN Encarta Premium Subscribers. Already a subscriber? Sign in above. Genetic Disorders I. Introduction Genetic Disorders , medical conditions caused by an error in a person’s genetic material. Some genetic disorders result in medical problems that are... II. Genes, Chromosomes, and Disease III. Types of Genetic Disorders A. Single-Gene Disorders B. Chromosomal Disorders C. Multifactorial Disorders D. Mitochondrial Disorders IV. Genetic Screening A. Preimplantation Diagnosis B. Prenatal Screening C. Newborn Screening D. Carrier Screening E. Family History Screening V.

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