21. Genetics - Some Facts Genetics Some Facts, chromosomal disorders affect about 7 of 1000 live-born infantsand account for about half of all spontaneous first-trimester abortions. http://www.manbir-online.com/genetics/genetics-2.htm

Sorry, your browser doesn't suppor Java. Genetics - Some Facts Chromosomal disorders affect about 7 of 1000 live-born infants and account for about half of all spontaneous first-trimester abortions. Some genetic defects affect whole chromosomes or segments of chromosomes. As in case of Downs syndrome three copies of chromosome 21 are present and no individual gene is abnormal. Chromosomal disorders can involve duplication, loss, breakage, or rearrangement of chromosomal material. Artificial chromosomes were created in yeast in the early 1980s, and the first artificial human chromosomes were created in the same medium in 1997. Medical applications of the artificial human chromosomes may include their use as vectors for moving therapeutic genes into cells to treat such diseases as sickle-cell anemia, hemophilia, and immune deficiencies. Multifactorial disorders - In these there is no single error in genetic information but a combination of small variations that together can produce or predispose an individual to a serious problem. Such disorders run in families. Environmental influences, diet and other lifestyle factors predispose the person to such disorders like - Coronary artery disease and diabetes mellitus.

22. 1Up Health > Genetics > Chromosomal Disorders (Genetic Markers, Heredity And Dis covers info such as definition, information, genetic disorders, examples ofsingle gene disorders, chromosomal disorders, multifactorial disorders http://www.1uphealth.com/health/genetics_4.html

1Up Health Special Topic Genetics Alternative Medicine ... Health Topics A-Z Search 1Up Health Special Topic Genetics Information Genetics : Chromosomal disorders Alternative names : Genetic markers, Heredity and disease, Heritable, Heterozygous, Homozygous, Inheritance, Inheritance patterns Definition : It is common knowledge that a person's appearance (e.g., height, hair color, skin color, and eye color) are determined by genes . A person's mental abilities and natural talents are affected by heredity. Many diseases (or susceptibility to acquire a disease) are also determined by genes. An inherited, abnormal trait or "anomaly" may: Have no real consequence to a person's health or well being (for example, a white splotch of hair or an extended ear lobe). Be of minor consequence (for example, color blindness Have multiple effects, resulting in dramatically decreased quality or length of life. For most genetic disorders, genetic counseling and prenatal diagnosis is advised. The terms anomaly, abnormality, disorder, defect, disease, and syndrome are not used consistently, and do not have precise definitions. Chromosomal disorders In chromosomal disorders, the defect is due not to a single gene, but to an excess or deficiency of the genes contained in a whole chromosome or chromosome segment.

23. Healthinfo4u - Chromosomal Disorders Topic Chromosonal Disorders. Order this article Title Association of a balancedchromosomal translocation (4; 12)(q21.3; q15), affective disorder and autism http://www.healthinfo4u.org/results_pages/Chromosomal_Disorders-1.html

Search Help Encyclopaedia About ... Home Topic: Chromosonal Disorders Last Updated: February 2003 Results 1 - 7 of 7 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: Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. (Research on routine use of quantitative fluorescence PCR aneuploidy testing for chromosome abnormality. 19 refs). Author: Mann, K; Fox, S; Abbs, S.

24. 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...

25. Chromosomal Disorders Linked Genetic Disorders. chromosomal disorders. SUBCATEGORIES. UpDown Syndrome. America Medica, Inc. ®. info@medlina.com. New York. http://www.medlina.com/chromosomal_disorders.htm

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Genetics Books Bio-Cloning ... DNA Chromosomal Disorders Gene Therapy Genetic Support Groups Genetics Journals Genetic Testing ... X Linked Genetic Disorders Chromosomal Disorders SUBCATEGORIES Up Down Syndrome powered by A merica M edica, I nc. info@medlina.com New York City

26. 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 03/30/2003 3:06:05

27. Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Ge A great resource for United States New - Personal - Health - Conditions Illnesses- Genetic Disorders - chromosomal disorders. chromosomal disorders http://www.zeal.com/category/preview.jhtml?cid=274082

28. MALADIES CHROMOSOMIQUES - INDICATIONS DU CARYOTYPE Home Genes Leukemias Tumors Cancer prone Deep Insight Portal Teaching CHROMOSOMALDISORDERS KARYOTYPE INDICATIONS. 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.

29. Molecular Basis Of Inherited Medicine Practical (10) FISH method for the analysis of chromosomal disorders.Prof. PCR method for the analysis of chromosomal disorders. http://e20.manu.edu.mk/rcgeb/tempus/molecularbasisofinheritedmedicine.html

5. Molecular Basis of Inherited Diseases Lectures (20): Patterns of inheritance. Prof. d-r Mirjana Kochova (2 lectures). Molecular epidemiology. Acad. Prof. d-r Georgi D. Efremov (2 lectures). The molecular pathology of single gene disorders. Acad. Prof. d-r Georgi D. Efremov (2 lectures). The molecular basis of hemoglobinopathies. Acad. Prof. d-r Georgi D. Efremov (1 lecture). The molecular basis of cystic fibrosis. d-r Dijana Plasheska-Karanfilska (1 lecture). The molecular basis of muscular dystrophy. d-r Liljana Simjanovska (1 lecture). The molecular basis of hypercholesterolemia. d-r Aleksandar Dimovski (1 lecture). The molecular basis of polycystic kidney disease. Acad. Prof. d-r Momir Polenakovic (1 lecture). The molecular basis of monogenic diseases resulting from expansion of trinucleotide repeats. d-r Dijana Plasheska-Karanfilska (1 lecture). The molecular basis of inherited thrombotic disorders. d-r Dimitar Efremov (1 lecture) The molecular basis of inherited colorectal carcinoma. d-r Aleksandar Dimovski (1 lecture). General approaches to the analysis of polygenic diseases. Prof. d-r Mirjana Kochova, Prof. d-r Katica Zografska (2 lectures).

30. Title: Application Of Microsatellite Genotyping In Chromosomal Application of Microsatellite Genotyping in chromosomal disorders. MingyiChunG. chromosomal disorders can be structural or numerical. http://www.ym.edu.tw/excellence/genome2000/sympo/genotype/ChungMY.html

Genome 2000 Application of Microsatellite Genotyping in Chromosomal Disorders Ming-yi ChunG Department of Medical Research and Education, Veterans General Hospital-Taipei, Taiwan, R.O.C. Microsatellite markers, a.k.a. short tandem repeats (STR) or simple tandem repeats, contain repetitive sequence composed of di-, tri-, or tetra-nucleotides. The number of repeats may vary from one person to another, i.e. polymorphic, and follow Mendelian inheritance. Due to their high informativeness and easy accessibility, these markers have been widely applied in various field of genetic research. Chromosomal disorders can be structural or numerical. Unbalanced chromosome disorders can be further investigated to delineate the nature of the defect, in terms of imprinting/parental origin and size of chromosome involved in the defect by using microsatellite genotyping. Chromosome 22q11 microdeletion syndrome and trisomy 21 will be discussed as examples.

31. Chromosomal Aberrations In Children With Suspected Genetic Disorders of the cases (40/41) referred as having a known chromosomal syndrome were aneuploid;13% of the remaining (13/96) with suspected chromosomal disorders had an http://www.emro.who.int/Publications/EMHJ/0301/17.htm

Chromosomal aberrations in children with suspected genetic disorders Volume 3, Issue 1, 1997, Page 114-122 Mohamed M. Mokhtar ABSTRACT Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. A total of 53 (38.7%) had an abnormal karyotype: trisomy 21 (36; 26.3%), trisomy 18 (3; 2.2%), trisomy 13 (1; 0.7%), partial autosomal aneuploidy (5; 3.6%), pericentric inversion of chromosome 9 (2; 1.5%), marker chromosome (2; 1.5%) and sex chromosome aberrations (4; 2.9%). All of them showed phenotypic-cytogenetic heterogeneity. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counselling. Les aberrations chromosomiques chez les enfants suspects de troubles génétiques Resume Un cariotype a été réalisé chez 137 enfants suspects d'anomalies chromosomiques telles les syndromes génétiquement incertains, les anomalies congénitales multiples, le retard statural, les traits de dysmorphie, l'arriération mentale non classifiée et le syndrome de Down. Au total, 53 enfants avaient un cariotype anormal: trisomie 21 (36; 26,3%), trisomie 18 (3; 2,2%), trisomie 13 (1; 0,7%), hétéroploïdie autosomique partielle (5; 3,6%), inversion péricentrique du chromosome 9 (2; 1,5%), marqueur chromosomique (2; 1,5%) et aberrations des chromosomes sexuels (4; 2,9%). Tous présentaient une hétérogénéité phénotypique et cytogénétique. Ces résultats laissent penser que l'analyse cytogénétique est utile dans les investigations réalisées chez les enfants ayant des troubles génétiques d'origine inconnue afin de confirmer le diagnostic clinique et de permettre le conseil génétique approprié.

32. Epidemiology Of Congenital Abnormalities In Bahrain Translate this page system have the highest incidence (2.28 per 1000), followed by the genitourinarysystem (2.13 per 1000), while the incidence of chromosomal disorders was 0.9 http://www.emro.who.int/Publications/EMHJ/0102/13.htm

Epidemiology of congenital abnormalities in Bahrain Volume 1, Issue 2, 1995, Page 248-252 Sheikha Salim Al Arrayed This study was carried out in order to find out the incidence of congenital anomalies in Bahrain. Statistics of the Bahraini Ministry of Health for 11 years from 1980 to 1990 were studied. The overall incidence rate of congenital anomalies in Bahrain was found to be 2.7% of live births. Each anomaly was studied separately and compared with the incidence in other countries, whenever possible. It was found that anomalies of the musculoskeletal system have the highest incidence (2.28 per 1000), followed by the genitourinary system (2.13 per 1000), while the incidence of chromosomal disorders was 0.9 per 1000. Epidémiologie des anomalies congénitales à Bahreïn Cette étude a été réalisée afin de déterminer l'incidence des anomalies congénitales à Bahreïn. Les statistiques produites par le Ministère de la Santé de Bahreïn sur une période de 11 ans de 1980 à 1990 ont été examinées. On a trouvé que le taux global de l'incidence des anomalies congénitales à Bahreïn s'élevait à 2,7% des naissances vivantes. Chaque anomalie a été étudiée séparément et son incidence a été comparée avec celle d'autres pays, chaque fois que possible. Cette étude a montré que l'incidence la plus élevée était celle concernant les anomalies du système ostéo-articulaire et musculaire (2,28 pour 1000) suivie par l'incidence des anomalies des organes génitaux et de l'appareil urinaire (2,13 pour 1000), tandis que l'incidence des anomalies chromosomiques s'élevait à 0,9 pour 1000.

33. Chromosomal Disorders chromosomal disorders. cell cycle. cell division.gametogenesis. chromosome. karyotype. aberrations. http://www.carnet.hr/cuc/cuc99/radovi/A1/a1-2p/a1-2p/tsld019.htm

Chromosomal disorders cell cycle cell division gametogenesis chromosome karyotype aberrations Previous slide Next slide Back to first slide View graphic version

34. Chromosomal Disorders chromosomal disorders 3th level Link to 1st level. . Link to 4th level_. http://www.carnet.hr/cuc/cuc99/radovi/A1/a1-2p/a1-2p/tsld017.htm

Chromosomal disorders3th level Link to 1st level Link to 4th level_ Link to the other project_ N A V I G A T O R S 4th level 3th level Previous slide Next slide Back to first slide View graphic version

35. 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

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. There is a link to mail me on the page if you find any inappropiate entries, please mail me so that I can edit it out as soon as possible! Special Needs Chat There is a chat room in Talk City for parents of special needs children. Talk City is a family oriented, and monitored IRC. Here is the information on how to get there with your chat client (pIRCh or mIRC):

36. 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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37. Medical Genetix, Professional Edition The chromosomal disorders featured are trisomy 21 (Down syndrome), trisomy 18 (Edwardsyndrome) and Klinefelter syndrome; and the singlegene disorders are http://www.mup.unimelb.edu.au/catalogue/0-734-02678-1.html

New Subjects Titles A-Z Series ... Home MUP Online Democracy by Richard McGarvie Kidspeak by June Factor Other educational multimedia titles copy of this title to my shopping basket. Secure online ordering MUP can accept credit-card details securely online for orders to be delivered within Australia. The ordering system gives you the option of producing a printable order form to fill in and send to us by fax or post for international or Australian delivery. For more information see the Ordering page. Medical Genetix Clinical and molecular aspects of human genetic disorders Professional edition Dr Sylvia Metcalfe August 2002, $50.00, CD, jewel case QuickTime video, animations, interactive images Same CD runs on both Windows and Macintosh - 64MB RAM, 800x600 display in 16-bit colour; Windows 95/98/NT/ME/2000/XP, 200MHz Pentium, SoundBlaster-compatible soundcard; Macintosh, 200MHz PowerPC, OS 7.5.5+, OSX(Classic). SUBJECT: Medicine and Health ISBN: STATUS: Available PUBLISHER: The University of Melbourne A University of Melbourne Multimedia project distributed non-exclusively by Melbourne University Publishing Site licences and class sets are available. Please e-mail

38. Table 1 A test involving the insertion,, chromosomal disorders; a, 12th14th week. Atest involving the introduction, chromosomal disorders; a, 8th-12th week. http://www.biomedcentral.com/1472-6939/2/3/table/T1

Table 1 Antenatal Tests Type of test Detectable conditions Stage of pregnancy Invasive: mother only MSAFP Estimation of maternal serum Neural tube defects; Down's 16th-18th week. alphafetoprotein in maternal syndrome. blood. Combined maternal blood test Estimation of MSAFP, chorionic Down's syndrome. 16th-18th week. gonadotropin and/or unconjugated oestriol. Invasive: both fetus and mother Amniocentesis A test involving the insertion, Chromosomal disorders; a 12th-14th week. through the mother's abdomen, number of hereditary disorders of a fine needle into the caused by a single gene; neural amniotic sac and the removal of tube disorders. amniotic fluid. Chorion biopsy A test involving the introduction Chromosomal disorders; a 8th-12th week. through the mother's vagina or number of hereditary disorders abdomen of a needle into the caused by a single gene. womb and the removal of tissue surrounding the fetus. Fetoscopy A test involving the introduction Chromosomal disorders; 16th-18th week. through the mother's abdomen disorders detectable by fetal of an instrument enabling the blood sampling; malformations.

39. 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:

40. Prenatal Diagnostics And Therapy Evaluation of risks related to chromosomal disorders. III.1. Introduction to chromosomaldisorders. Diagnostic methods for the exclusion of chromosomal disorders. http://www.ferticon.de/artikel.php3?artikel=6&la=en

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