21. Genetic Disorder - Wikipedia, The Free Encyclopedia 2 Multifactoral and polygenic disorders; 3 chromosomal disorders chromosomal disorders can also be caused by changes in chromosome structure. http://en.wikipedia.org/wiki/Genetic_disorder

Wikimedia needs your help in the final day of its fund drive. See our fundraising page Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Genetic disorder From Wikipedia, the free encyclopedia. A genetic disorder , or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: They may be caused by random mutation There are genetic disorders caused by the accidental duplication of a chromosome , as in Down syndrome and Klinefelter's syndrome , or repeated duplication of part of a chromosome as in Fragile X syndrome The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease . This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. Currently around 4,000 genetic disorders are known; new ones are constantly discovered. The vast majority of these disorders are quite rare, and affect one person in every several thousands or millions. Cystic fibrosis is the most common genetic disorder; around 5% of the population of the

22. Chromosome Disorders,Chromosomal Disorders Chromosome Disorders,chromosomal disorders. Who to contact for information about chromosomal disorders. (Deletions, additions, translocations, trisomys, http://aspin.asu.edu/geneinfo/chrom.html

Chromosome Disorders,Chromosomal Disorders For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY ( Read All About Genetics and Chromosomal Disorders and how they are labelled. Who to contact for information about Chromosomal Disorders (Deletions, additions, translocations, trisomys, etc) Chromosome Deletion Outreach http://www.chromodisorder.org email: CDO@att.net Unique Rare Chromosome Disorder Support Group http://www.rarechromo.org email: info@rarechromo.org Rainbows Downunder Trisomy Listserv http://www.challengenet.com/~trisomy/chromlinks.htm email: Karens@tig.com.au Trisomy 8 http://www.geocities.com/Heartland/Creek/4425 email: j722@worldnet.att.net Rare Rare Trisomy Disorders Message Board (Here you can post a message asking if anyone has information on this disorder) http://www.escribe.com/health/rrt/bb

23. All About Genetics, Genes,chromosomes,cells,mitochondria,genetic Disorders, Birt In chromosomal disorders, the defect is due not to a single gene, The frequency of chromosomal disorders in early spontaneous abortions is 60%, http://aspin.asu.edu/geneinfo/chromdis.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY All About GENETICS ( Sources are listed at the end of article. The superscript numbers indicate the source -example Previous Page Next Page Return to Contents 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, which is usually visible under a light microscope. There are two main types of chromosomal abnormality which may occur during meiosis and fertilisation. These are known as structural aberrations and numerical aberrations. If a chromosome or piece of a chromosome is missing or duplicated, there are missing or extra genes respectively. When a person has missing or extra information (genes) problems can develop for that individual's health and development. A chromosomal abnormality occurs when there is a defect in a chromosome or in the arrangement of the genetic material on the chromosome. Chromosomal abnormalities give rise to specific physical features, but it should be stressed that there may be wide variations in the severity of the symptoms in individuals with the same chromosome abnormality.

24. AllRefer Health - Genetics: Chromosomal Disorders (Genetic Markers, Heredity And Genetics (Genetic Markers, Heredity and Disease, Heritable, Heterozygous, Homozygous, Inheritance, Inheritance Patterns) information center covers http://health.allrefer.com/health/genetics-4.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump Adolescent Development Aging Changes in Skin Alcohol Use Body Mass Index Breast Lump Self Exam Condoms, Female Condoms, Male Contraception and Family Planning Developmental milestones Diabetic Education Drug abuse Emergency Contraception Exercise/Physical Activity Fetal Development Fitness Tips Genetics Heart Disease and Women Hormone Replacement Therapy Immune Response Immunizations/Vaccinations Infant/Newborn Development Living Will Orgasmic Dysfunction Physical Exam Frequency Pregnancy Care Puberty/Adolescence Rape Recognizing Emergencies Safe Sex Safety Sexual Problems Smoking/Tobacco Use Stress Management Weight Management 500+ More Special Topics Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Special Topic Genetics : Chromosomal disorders Genetics Definition Description Genetic disorders Examples of single gene disorders Chromosomal disorders Multifactorial disorders Mitochondrial dna-linked disorders Go To Main Page Alternate Names : Genetic Markers, Heredity and Disease, Heritable, Heterozygous, Homozygous, Inheritance, Inheritance Patterns

25. Core Curriculum - POSNA Discuss the processes responsible for common chromosomal disorders 4. Describe the chromosomal status of children with Down s syndrome http://www.posna.org/index?service=page/coreCurriculum&article=chromosomalDisord

26. Genetic Disorder: Definition And Much More From Answers.com chromosomal disorders. Changes that affect entire chromosomes or segments chromosomal disorders can also be caused by changes in chromosome structure. http://www.answers.com/topic/genetic-disorder

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Dictionary Medical Term Diagnosis Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping genetic disorder Dictionary genetic disorder n. A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease inherited disorder Medical Term Genetic disease A disease caused by an abnormality in an individual's genome. There are a number of different types of genetic inheritance: Single gene inheritance Also called Mendelian or monogenic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. Some examples are cystic fibrosis , sickle cell anemia, Marfan syndrome, Huntington's disease, and hemochromatosis . Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked. Multifactorial inheritance Also called complex or polygenic inheritance. This type of inheritance is caused by a combination of environmental factors and mutations in multiple genes. For example, different genes that influence

27. Chromosome Analysis: Information From Answers.com The test is completely accurate for most chromosomal disorders. Disadvantages. It s expensive. It s limited to disorders for which specific genes have been http://www.answers.com/topic/chromosome-analysis

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Medical Tests Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Chromosome Analysis Medical Tests Chromosome Analysis General information Where It's Done Who Does It How Long It Takes Discomfort/Pain Doctor's office, hospital, or commercial laboratory. Doctor, nurse, or technician. Usually less than 5 minutes. Slight (from drawing blood or obtaining tissue sample). Results Ready When Special Equipment Risks/Complications Average Cost 3 days to 2 weeks. Supplies for drawing blood, possibly a biopsy tool, possibly an aspiration needle (for amniocentesis). Negligible for drawing blood; other risks depend on which tissue cells are extracted for analysis. Other names Chromosome karyotype or cytogenetics. Purpose To look for the cause of birth defects, mental retardation, or retarded growth. To detect chromosomal disorders in the fetus. To reveal the cause of infertility or repeated miscarriages. To evaluate couples with chromosomally abnormal children. To evaluate women who aren't menstruating.

28. Types Of Genetic Disorders chromosomal disorders are studied using the methods of cytogenetics. These disorders are caused by numerical or structural abnormalities of one or more of 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:

29. Chromosomal Disorders (from Childhood Disease And Disorder) --  Encyclopædia B chromosomal disorders (from childhood disease and disorder) A normal person has 46 chromosomes, but sometimes developmental faults occur that result in the http://www.britannica.com/eb/article-59469

Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents Introduction Diagnosis and general considerations of treatment and prevention Disease-affecting differences between children and adults Anatomical differences ... Physiological differences Disorders present at birth Diseases transmitted through the placenta or due to placental dysfunction Injuries incurred during birth Prematurity and low birth weight Metabolic disturbances ... Skin disorders Chromosomal disorders Disorders of later infancy and childhood Sudden infant death syndrome (SIDS) Failure to thrive Malnutrition Classic infectious diseases of childhood ... Print this Table of Contents Shopping Price: USD $1495 Revised, updated, and still unrivaled. The Official Scrabble Players Dictionary (Hardcover) Price: USD $15.95 The Scrabble player's bible on sale! Save 30%. Merriam-Webster's Collegiate Dictionary Price: USD $19.95 Save big on America's best-selling dictionary. Discounted 38%!

30. Frequency Of Chromosomal Disorders  Among Live Born Infants Frequency of chromosomal disorders Among Live Born Infants. 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

31. Genetics - Some Facts chromosomal disorders affect about 7 of 1000 liveborn infants and account for about half of Frequency of chromosomal disorders Among Live Born Infants 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.

32. HighWire -- Browse Journals - Nervous System Chromosomal Disorders Browse Journals publishing on Nervous System chromosomal disorders, (return to Topic List page). TopicMap, Nervous System chromosomal disorders http://highwire.stanford.edu/lists/topic_dir/608683/618131/620438/620963/focus.d

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Nervous System Chromosomal Disorders: (return to Topic List page) Nervous System Chromosomal Disorders Cri-du-Chat Syndrome Prader-Willi Syndrome De Lange Syndrome Rubinstein-Taybi Syndrome ... Nervous System Diseases Nervous System Chromosomal Disorders Home Adv. Search For Institutions For Publishers ... partners/suppliers

33. Chromosomal Aberrations In Children With Suspected Genetic Disorders Chromosomal aberrations in children with suspected genetic disorders 13% of the remaining (13/96) with suspected chromosomal disorders had an abnormal http://www.emro.who.int/Publications/EMHJ/0301/17.htm

Eastern Mediterranean Health Journal Back to Health Journal page Health Journal back issues Home 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.

34. Physicians Associating Chromosomal Disorders With Diabetes, Osteoporosis Two common chromosomal disorders, Klinefelter s and Turner s Syndrome, that cause sterility are increasingly being associated with other endocrinerelated http://www.aace.com/pub/press/releases/2002/index.php?r=20020501-13

35. MALADIES CHROMOSOMIQUES - INDICATIONS DU CARYOTYPE chromosomal disorders KARYOTYPE INDICATIONS. I-Constitutional chromosomal disorders. I-1. Incidence I-2. Etiology. I-2. 1. 1. Chromosomal factors 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.

36. Down Syndrome While Down syndrome is a chromosomal disorder, a baby is usually identified Carey, John C. chromosomal disorders. In Rudolph s Pediatrics, edited by http://www.chclibrary.org/micromed/00045710.html

Main Search Index Definition Description Causes ... Resources Down syndrome Definition Down syndrome is the most common cause of mental retardation and malformation in a newborn. It occurs because of the presence of an extra chromosome. Description Chromosomes are the units of genetic information that exist within every cell of the body. Twenty-three distinctive pairs, or 46 total chromosomes, are located within the nucleus (central structure) of each cell. When a baby is conceived by the combining of one sperm cell with one egg cell, the baby receives 23 chromosomes from each parent, for a total of 46 chromosomes. Sometimes, an accident in the production of a sperm or egg cell causes that cell to contain 24 chromosomes. This event is referred to as nondisjunction. When this defective cell is involved in the conception of a baby, that baby will have a total of 47 chromosomes. The extra chromosome in Down syndrome is labeled number 21. For this reason, the existence of three such chromosomes is sometimes referred to as Trisomy 21. Causes and symptoms While Down syndrome is a chromosomal disorder, a baby is usually identified at birth through observation of a set of common physical characteristics. Babies with Down syndrome tend to be overly quiet, less responsive, with weak, floppy muscles. Furthermore, a number of physical signs may be present. These include:

37. Genetic Disorder -- Facts, Info, And Encyclopedia Article chromosomal disorders. Changes that affect entire (A threadlike body in the chromosomal disorders can also be caused by changes in chromosome structure. http://www.absoluteastronomy.com/encyclopedia/g/ge/genetic_disorder.htm

Genetic disorder [Categories: Genetic disorders, Genetics] A genetic disorder , or genetic disease is a (An impairment of health or a condition of abnormal functioning) disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: They may be caused by an unwelcome ((genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism) mutation , as are most (Type genus of the family Cancridae) cancer s. There are genetic disorders caused by the accidental duplication of a (A threadlike body in the cell nucleus that carries the genes in a linear order) chromosome , as in (A congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation) Down syndrome and (Click link for more info and facts about Klinefelter's syndrome) Klinefelter's syndrome , or repeated duplication of part of a chromosome as in (Click link for more info and facts about Fragile X syndrome) Fragile X syndrome The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a

38. References blood incompatibilities Genetics of performance traits Karyotyping and chromosomal disorders An update of chromosomal abnormalities in mares. http://www.vgl.ucdavis.edu/~lvmillon/refs8.html

Home Services Research Informatics Customer Service Phone: 530-752-2211 or email Research REFERENCES [This collection of references on genetics of horses is not comprehensive, but should provide good starting material for people looking for information about genetics of horses.] Blood groups, protein polymorphisms, MHC polymorphisms and parentage testing Color and coat Characteristics Equine DNA markers Equus ... Karyotyping and chromosomal disorders Karyotyping and chromosomal diseases Basrur, P.K., Kanagawa, H. and Gilman, J.P.W., 1970. Further studies on the cell populations of an intersex horse. Journal of Comparative Medicine 34:294-298. Blue, M.G., 1981. A cytogenetical study of prenatal loss in the mare. Theriogenology 15:295-309. Bowling, A.T. and Millon, L., 1988. Centric fission in the karyotype of a mother-daughter pair of donkeys (Equus asinus). Cytogenetics and Cell Genetics 47:152-154. Bowling, A.T. and Millon, L., 1990. Two autosomal trisomies in the horse: 64,XX,-26+t(26q26q) and 65,XX,+30. Genome 33:679-682. Bowling, A.T., Millon, L. and Hughes, J.P., 1987. An update of chromosomal abnormalities in mares. Journal of Reproduction and Fertility, Suppl. 35:149-155.

39. Genetic Disorder - Enpsychlopedia 2 Multifactoral and polygenic disorders. 3 chromosomal disorders chromosomal disorders can also be caused by changes in chromosome structure. http://psychcentral.com/psypsych/Genetic_disorder

home resource directory disorders quizzes ... support forums Genetic disorder A genetic disorder , or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: They may be caused by random mutation There are genetic disorders caused by the accidental duplication of a chromosome , as in Down syndrome and Klinefelter's syndrome , or repeated duplication of part of a chromosome as in Fragile X syndrome The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease . This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant. Contents showTocToggle("show","hide") 1 Single gene disorders 1.1 Transmission of single gene disorders 2 Multifactoral and polygenic disorders 3 Chromosomal disorders ... edit Single gene disorders A number of genetic disorders are due to the change of a single gene , resulting in an enzyme or other protein not being produced or having altered functionality, they are called

40. Search % Of De Novo Vs Inherited Apparently Balanced Life expectancy of those with chromosomal disorders. Long Term Effects of Inversions Marker chromosomes please explain in detail what they are, http://www.chromodisorder.org/sytrix/card_list.php3?dbid=63&id=370

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