81. CHROMOSOMAL And TERATOLOGIC DISORDERS chromosomal and TERATOLOGIC disorders. There are seven major disorders listedin this category. A brief description of each is given in the ensuing text http://www.worldortho.com/database/etext/chromosomal.html

CHROMOSOMAL and TERATOLOGIC DISORDERS There are seven major disorders listed in this category. A brief description of each is given in the ensuing text: Down Syndrome (Trisomy 21) This is the most common chromosomal abnormality. The afflicted children usually manifest ligament laxity, hypotonia, endocrine disorders, premature ageing, mental impairment to varying degrees and an inclination towards heart disease. Orthopaedic problems include: - spinal disorders such as scoliosis and spondylolisthis - hip instability may need an osteotomy. - patellar dislocation - planovalgus feet - metatarsus primus varus - slipped capital femoral epiphysis If surgery is planned preoperative cardiac evaluation is essential. Turner Syndrome D) Turner Syndrome - 45, XO affecting females. Afflicted girls exhibit some or all of the following symptoms. - short stature - cubitus valgus - web neck - sexual infantilism - scoliosis [which can be exacerbated to some degree with hormonal therapy] - renal anomalies [affecting about 2/3 of patients] - cardiac anomalies [affecting about 1/3 of patients] - genu valgum Malignant hyperthermia is common after anaesthetic use Noonan Syndrome affecting males.

82. Buy The Research Report "The Complete Directory For Pediatric Buy The Research R Human Karyotypes Exhibiting Various Abnormalities Normal Male Karyotype Normal Female Karyotype Example of a Down Syndrome Karyotype Example of a Klinefelter Syndrome Karyotype Example of a Turner Syndrome Karyotype http://redirect-west.inktomi.com/click?u=http://www.findmarketresearch.com/marke

83. References Karyotyping and chromosomal diseases. Basrur, PK, Kanagawa, H. and Gilman,JPW, 1970. An update of chromosomal abnormalities in mares. http://www.vgl.ucdavis.edu/~lvmillon/refs8.html

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. Buckland, R.A., Fletcher, J.M. and Chandley, A.C., 1976. Characterization of the domestic horse

84. Florida State University College Of Medicine Digital Library Access document; Nontraditional Inheritance Access document; ChromosomalDisorders Access document; Mitochondrial DNA Abnormalities http://fsumed-dl.slis.ua.edu/clinical/genetics/general.htm

Clinical Resources by Topic: Genetic Disorders General Genetic Disorders Clinical Resources Clinical Guidelines Clinical Trials News Miscellaneous Resources See also: Genetic Testing Clinical Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 65: Principles of Human Genetics: Table of contents Impact of Genetics on Medical Practice: Access document Chromosomes and DNA Replication: Access document Organization of DNA into Chromosomes: Access document Replication of DNA and Mitosis: Access document Assortment and Segregation of Genes during Meiosis: Access document Regulation of Gene Expression: Access document Introduction: Access document Structure of Genes: Access document Transcriptional Activation and Repression: Access document Cloning and Sequencing DNA: Access document Introduction: Access document Cloning of Genes: Access document Introduction: Access document Nucleic Acid Hybridization: Access document The Polymerase Chain Reaction: Access document DNA Sequencing: Access document Introduction: Access document Transgenic Mice as Models of Genetic Disease: Access document The Human Genome Project: Access document Introduction: Access document The Genetic Map: Access document The Physical Map: Access document Status of DNA Sequencing: Access document Ethical Issues: Access document Transmission of Genetic Disease: Access document Origins and Types of Mutations: Access document Functional Consequences of Mutations: Access document Genotype and Phenotype: Access document Alleles, Genotypes, and Haplotypes:

85. Exploring Genes & Genetic Disorders churning out an unprecedented volume of data on human chromosomes and the tens ofthousands of genes residing on them, many associated with genetic disorders. http://www.ornl.gov/hgmis/posters/chromosome/

The U.S. Department of Energy Biological and Environmental Research program funds this site. DOWNLOAD: Gene Gateway Handout (PDF) S cientists, enabled by the Human Genome Project , are churning out an unprecedented volume of data on human chromosomes and the tens of thousands of genes residing on them, many associated with genetic disorders. These data, and many Web sites on human genetic disorders, are freely accessible on the Internet. Listed below are guides and tutorials that provide a gateway for the novice or layperson to find and use this growing wealth of information. 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. For more information on genetic health professionals, see the HGPI Genetic Counseling page and the Genetic Health Professionals section of the Genetic Disorder Guide Human Genome Landmarks wall poster depicting the 24 human chromosomes and some g enes associated with disorders and traits. To order a free copy

86. What Causes Language Disorders n Recessive patterns of inheritance. n Affected gene unknown. Prevention of ChromosomalDisorders. w Genetic counseling. w Family planning. w Prenatal diagnosis. http://www.southalabama.edu/speechandhearing/431causes.htm

What causes language disorders? w Two answers: (1) We don’t know; (2) Lots of things. w ID 1 cause, but what causes that? Etc. w Causation = association w Most complex developmental problems are multifactoral n No single factor for all children with disorders n Rarely a single factor for individual children n Knowing 1 factor could lead you to overlook others Preventing Language Disorders (see Table 4-1, p. 108 Paul) w Primary Prevention n Stopping the disease/disorder from happening n Examples: Rubella vaccination, genetic counseling w Secondary Prevention n Early identification to minimize impact and maximize outcomes n Example: NICU follow-up clinic w Tertiary Prevention (not really prevention) n Intervention to achieve optimal levels Syndromic and Nonsyndromic Language Disorders w Syndromic (def) individual has multiple anomalies having a single cause n Example: Down syndrome, Fetal Alcohol Syndrome w Nonsyndromic (def) disorders of unknown etiology, few signs/symptoms other than language, multiple factors n Example: Dyslexia, Specific Language Impairment

87. Sex Chromosomal Aneuploidies (SCA) - Lucile Packard Children's Hospital Sex chromosomal Aneuploidies (SCA). What are Sex chromosomal Aneuploidies?Sex chromosome aneuploidies (SCA) describe those conditions http://www.lpch.org/clinicalSpecialtiesServices/COE/BrainBehavior/Psychiatry/sca

Overview Our Team Research and Clinical Trials Anxiety Disorders Clinic ... Trisomy 21 (Down Syndrome) Sex Chromosomal Aneuploidies (SCA) What are Sex Chromosomal Aneuploidies? Sex chromosome aneuploidies (SCA) describe those conditions in which there is some variation among the normal euploidic sex chromosomes in male (XY) or female (XX) individuals. These variations are most often caused by non-disjunction of the 23rd sex chromosome pair during meiosis. Found in 1 in 400 live newborns, SCA are even more common than Down syndrome or fragile X syndrome. While SCA can include a variety of abnormalities of the sex chromosomes, by far the most commonly occurring SCA involve the deletion (45,X or partial X monosomy) or addition (47,XXY, 47,XYY, 47,XXX) of an X or Y chromosome. Of these conditions, only Turner syndrome, caused by the loss of all or part of an X chromosome, results in an easily identifiable physical phenotype. Subtle language, neuromotor, and learning difficulties have been identified in most forms of SCA, however. The neurodevelopmental effects of the 47XXY (Klinefelter syndrome) and 47XXX karyotypes are also investigated in light of these phenotypic features. Why do we study SCA?

88. Topica Email List Directory Click Here! List Directory, Lists Help. Category http://www.topica.com/dir/?cid=2952

89. Topica Email List Directory Click Here! List Directory, http://www.topica.com/lists/mosaictrisomy8/?cid=2952

90. Links Chromosome Deletion and Epilepsy Links. Parentto-Parent Support Groups,Chromosome Disorder and Random Associated Links, Email Groups. http://chromosome3.virtualave.net/chromeplinks.htm

Chromosome Deletion and Epilepsy Links Parent-to-Parent Support Groups Chromosome Disorder and Random Associated Links Email Groups MUMS Parent to Parent Network Chromosomal Deletion Outreach (CDO) UNIQUE: Rare Chromosomal Disorders Support Group Parent to Parent New Zealand ... Alliance of Genetic Support Groups Diagnosis-Matching Internet Bulletin Boards Special Child Parent-to-Parent Matching Bulletin Board Family Village Parent to Parent Web Boards ParentSoup Kids with Special Needs Board Developmental Disabilities Forum ... Medscape Pharmacotherapy Home Page Epilepsy Links Epilepsy in Young Children Epilepsy in Young Children Egroup Parents' Epilepsy Support Group Parents' Epilepsy Support Group Yahoo site ... ParentsPlace Epilepsy Board CaringParents - This list is for adults to discuss the issue of children coping with illness (their own illness, or someone they care about). To subscribe send an e-mail message to: listserv@maelstrom.stjohns.edu

91. Human Diseases This is a small and incomplete list of pages related to specific genetic and inheriteddiseases Support groups for families of those affected are included http://www.hgmp.mrc.ac.uk/GenomeWeb/diseases.html

Welcome to the GenomeWeb Human Diseases Search for This is a small and incomplete list of pages related to specific genetic and inherited diseases Support groups for families of those affected are included where they are known. Notice to members of the public searching for information on inherited diseases: The HGMP-RC provides a service to researchers working on the Human Genome Project, but we are not the most appropriate people to ask about specific genetic diseases. We advise you to find a national support group for the disease and contact them. They will be in touch with people who are directly working on the causes and cures of this disease and will usually have a regular newsletter that you can subscribe to. Your family medical practitioner or your local public library would be a good place to start in contacting the support groups. You should also search the OMIM and GDB databases. Places to start searching Diseases, Support Groups and Patient Information Chromosomal Disorders Detailed information on the above options Places to start searching National (USA) Organization for Rare Disorders (NORD) Study of Inborn Errors of Metabolism European Research Network for Diagnosis of Inherited Disorders of Metabolism (ERNDIM) British Inherited Metabolic Diseases Group (BIMDG) ... Lebenshilfe Diseases, Support Groups and Patient Information

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