1. 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

2. Cytogenetics And Chromosomal Disorders Cytogenetics and chromosomal disorders. Core information about cytogeneticsand chromosomal disorders is presented in the following topics http://arbl.cvmbs.colostate.edu/hbooks/genetics/medgen/chromo/

Genetics Index Glossary Cytogenetics and Chromosomal Disorders Cytogenetics is the study of normal and abnormal chromosomes. This includes examination of chromosome structure, learning and describing the relationships between chromosome structure and phenotype, and seeking out the causes of chromosomal abnormalities. In the simplest case, chromosomes are examined and characterized by obtaining an individual's karyotype, which is a description of the number and structure of the chromosomes. All species are affected by chromosomal disease. Its manifestations are diverse and numerous, including early embryonic death, minor to major congenital defects, development of cancer, and infertility or sterility. A broad base of knowledge is necessary in order to understand, diagnose and advise about this important class of diseases. Core information about cytogenetics and chromosomal disorders is presented in the following topics: Chromosome Structure and Terminology Preparing a Karyotype Aneuploidy and Deletions Translocations ... Overview of Chromosomal Disease Advanced and supplemental topics related to cytogenetic and chromosomeal disease are: Chromosome Numbers in Different Species Last updated on December 08, 1996

3. Cytogenetics And Chromosomal Disorders Cytogenetics and chromosomal disorders Cytogenetics is the study of normal and abnormal chromosomes. http://www.vivo.colostate.edu/hbooks/genetics/medgen/chromo

Genetics Index Glossary Cytogenetics and Chromosomal Disorders Cytogenetics is the study of normal and abnormal chromosomes. This includes examination of chromosome structure, learning and describing the relationships between chromosome structure and phenotype, and seeking out the causes of chromosomal abnormalities. In the simplest case, chromosomes are examined and characterized by obtaining an individual's karyotype, which is a description of the number and structure of the chromosomes. All species are affected by chromosomal disease. Its manifestations are diverse and numerous, including early embryonic death, minor to major congenital defects, development of cancer, and infertility or sterility. A broad base of knowledge is necessary in order to understand, diagnose and advise about this important class of diseases. Core information about cytogenetics and chromosomal disorders is presented in the following topics: Chromosome Structure and Terminology Preparing a Karyotype Aneuploidy and Deletions Translocations ... Overview of Chromosomal Disease Advanced and supplemental topics related to cytogenetic and chromosomeal disease are: Chromosome Numbers in Different Species Last updated on December 08, 1996

4. Overview Of Chromosomal Disease The concepts on incidence presented above refer to the broad spectrumof chromosomal disorders. Causes of chromosomal disorders. http://arbl.cvmbs.colostate.edu/hbooks/genetics/medgen/chromo/chromo_dis.html

Genetics Index Glossary Overview of Chromosomal Disease Cytogenetic abnormalities are common in all species. The best data on incidence have been collected from humans, and that information seems to be very similar to what appears to be happening in other animals. Incidence and Significance Both the overall incidence, and the occurrence of specific abnormalities clearly depend upon when the data are collected relative to development. This bias is clearly understood by considering the effect on survival of minor versus major genetic lesions. For example, when newborn children are screened, it is found that roughly 1 in every 200 has a chromosomal abnormality. Some of these children are phenotypically normal, while others have obvious, sometimes severe manifestations of disease. By definition however, these children have chromosomal disorders at the "mild" end of the spectrum because they are compatible with survival to term. A much higher incidence of chromosomal disease is seen if one looks earlier in gestation. Approximately half of the human fetuses that are spontaneously aborted during the first trimester are chromosomally abnormal, reflecting chromosomal disorders severe enough to disrupt prenatal development. If one looks at chromosomes in preimplantation embryos, even higher numbers of abnormalities are seen: 5-10% of viable blastocysts collected from cattle and pigs were cytogenetically abnormal. Finally, some chromosomal abnormalities are essentially never seen, presumably because they are so profound as to cause death shortly after fertilization.

5. Chromo Links ome chromosomal disorders. Coming Events Understanding KS Contact Us Birth Designs KS Information KS Links http://www.2beornot2be.com/Chromosomes/xxy/id28.htm

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6. THE MERCK MANUAL, Sec. 21, Ch. 286, General Principles Of Medical Genetics Nontraditional Inheritance. chromosomal disorders. Mitochondrial DNA Abnormalities. GeneticTherapy. click here for navigation help. chromosomal disorders. http://www.merck.com/pubs/mmanual/section21/chapter286/286e.htm

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 21. Special Subjects Chapter 286. General Principles Of Medical Genetics Topics [General] Inheritance Of Single-Gene Defects Multifactorial Inheritance Nontraditional Inheritance ... Genetic Therapy Chromosomal Disorders Genes are carried on chromosomes; thus missing or extra chromosomes or parts of chromosomes can have a major effect on how genes in that region function. Families of genes that have similar functions may be clustered on one chromosome or may be spread over many different chromosomes. Some specific chromosomal abnormalities are discussed in Ch. 261.

7. About - Chromosomal Disorders Learn about chromosomal disorders using the resources and guides selected by this subject specialist. http://redirect-west.inktomi.com/click?u=http://www.looksmart.com/og/pr%3Dcdd%3B

8. THE MERCK MANUAL, Sec. 21, Ch. 286, General Principles Of Medical Multifactorial Inheritance. Nontraditional Inheritance. chromosomal disorders. MitochondrialDNA Abnormalities. Cancer Genetics. Immunogenetics. Forensic Genetics. http://www.merck.com/pubs/mmanual/section21/chapter286/286d.htm

9. Chromosomal Disorders chromosomal disorders Guide picks. Chromosomes hold the genetic keysto all of the body's functions. There may be errors on any of http://rarediseases.about.com/cs/chromosomeproblem/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Chromosomal disorders Guide picks Chromosomes hold the genetic keys to all of the body's functions. There may be errors on any of the body's 23 pairs of chromosomes, such as broken or missing pieces or too many pieces or copies. Links below are grouped by chromosome number. Chromosome 2 Disorders Links to information and resources for disorders of Chromosome 2. Chromosome 3, 4, 5 disorders Links to information and resources for syndromes associated with Chromosomes 3, 4, or 5. Abetalipoproteinemia (Chromosome 4) An error on Chromosome 4 produces this disorder, in which fats are absorbed but can't be broken down by the body. Also known as Bassen-Kornzweig syndrome. Chromosome 8, 9, 10 disorders

10. Chromosomal Disorders - Page 2 Of 2 Links to information and support sites for syndromes that occur with defects in any of the 23 pairs of human chromosomes. Free Psychics. chromosomal disorders. Guide picks http://lupus.about.com/cs/chromosomeproblem/index_2.htm

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Chromosomal disorders Guide picks Previous Chromosome 22 disorders Links to information and resources for disorders associated with Chromosome 22. Sex chromosome disorders Links to information and resources for disorders associated with the sex chromosomes, such as Fragile X and Klinefelter syndromes. Turner Syndrome A genetic disorder in girls caused by a missing or defective X (female) chromosome. Previous Email this page! Sponsored Links Need Health Insurance? Free health insurance quotes. Quote all the major plans. http://healthaquote.com/ Sponsored Link SoftAid Medical Management Systems SoftAid provides cost effective practice management and medical billing systems for healthcare organizations of all sizes. Our products are secure and easy to use. Click for a free demo. http://www.soft-aid.com/

11. Chromosomal Disorders - Page 2 Of 2 chromosomal disorders Guide picks. http://rarediseases.about.com/cs/chromosomeproblem/index_2.htm

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Chromosomal disorders Guide picks Previous Chromosome 22 disorders Links to information and resources for disorders associated with Chromosome 22. Sex chromosome disorders Links to information and resources for disorders associated with the sex chromosomes, such as Fragile X and Klinefelter syndromes. Turner Syndrome A genetic disorder in girls caused by a missing or defective X (female) chromosome. Previous Email this page! Sponsored Links Need Health Insurance? Free health insurance quotes. Quote all the major plans. http://healthaquote.com/ Sponsored Link SoftAid Medical Management Systems SoftAid provides cost effective practice management and medical billing systems for healthcare organizations of all sizes. Our products are secure and easy to use. Click for a free demo. http://www.soft-aid.com/

12. Buy The Best-Selling Book Primary Eyecare In Systemic DiseaseBuy The Best-Sellin Screening for Down Syndrome New test more accurate at detecting chromosomal disorders during first trimester By Beth Cooney The Stamford Advocate http://redirect-west.inktomi.com/click?u=http://www.shop-mcgraw-hill.com/mcgrawh

13. © The Centre For Genetics Education Fact Sheet 24b, Last Updated May 2002. chromosomal disorders II KLINEFELTERSYNDROME - XXY. Produced by the Centre for Genetics Education. http://www.genetics.com.au/Genetics2003/FactSheets/24b.asp

GENETIC FACT SHEETS Fact Sheet 24b Last Updated: May 2002 CHROMOSOMAL DISORDERS II - KLINEFELTER SYNDROME - XXY Produced by the Centre for Genetics Education. Fax: (02) 9906 7529 Email: genetics@med.usyd.edu.au Internet: www.genetics.com.au Adobe Acrobat PDF Printable Version (12 KB) More detailed information relevant to this Fact Sheet can be found in Fact Sheets: 1, 10a ,11 and 12a. WHAT IS KLINEFELTER SYNDROME? Klinefelter syndrome is the name given to a condition in which there is a characteristic group of symptoms including the tendency to develop breasts, sparse facial hair, and an inability to produce sperm. The condition only affects boys. An additional X chromosome is found in the cells of these affected boys, giving them two X chromosomes instead of the usual one. The syndrome was first described in 1942 by Dr Harry Klinefelter and it was later given his name. Klinefelter syndrome is one of the more common genetic conditions and occurs in between 1 in 500 and 1 in 1000 males. WHAT CAUSES KLINEFELTER SYNDROME? Klinefelter syndrome is the result of a mistake in cell division either at the time of conception or soon after. Males usually have one X chromosome which they receive from their mother and a Y chromosome which they receive from their father. These are called the sex chromosomes. They also have 22 pairs of autosomes (chromosomes which are not sex chromosomes), one of each pair from mother and the other from father. Therefore, there are 46 chromosomes altogether in every cell of the body and this is written as 46,XY.

14. © The Centre For Genetics Education Fact Sheet 24c, Last Updated May 2002. chromosomal disorders III TURNER SYNDROME -XO. Produced by the Centre for Genetics Education. http://www.genetics.com.au/Genetics2003/FactSheets/24c.asp

GENETIC FACT SHEETS Fact Sheet 24c Last Updated: May 2002 CHROMOSOMAL DISORDERS III - TURNER SYNDROME -XO Produced by the Centre for Genetics Education. Fax: (02) 9906 7529 Email: genetics@med.usyd.edu.au Internet: www.genetics.com.au Adobe Acrobat PDF Printable Version (17 KB) More detailed information relevant to this Fact Sheet can be found in Fact Sheets: 1, 10a and 11. WHAT IS TURNER SYNDROME? Turner syndrome is a disorder which only affects girls. In 1938 Henry Turner, an American doctor, was one of the first people who noticed a pattern in some women who had decreased height and a lack of secondary sex characteristics ie breast development, menstruation and sexual hair growth. Some 20 years later, in 1959, it was discovered that women with this pattern of symptoms were missing all or part of an X chromosome. Turner syndrome is not common, but neither is it extremely rare. About 1 girl in every 2000 will have this condition. Approximately 1.5% of all babies conceived have Turner syndrome but only 2-3% of these babies will survive to full term. WHAT IS THE CAUSE OF TURNER SYNDROME?

15. All About Genetics, Genes,chromosomes,cells,mitochondria,genetic Disorders, Birt The superscript numbers indicate the source example 2 ) Previous PageNext Page Return to Contents. chromosomal disorders. In chromosomal http://www.icomm.ca/geneinfo/chromdis.htm

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.

16. IComm: File Not Found! Who to contact for information about chromosomal disorders (Deletions, additions. ReadAll About Genetics and chromosomal disorders and how they are labelled. http://www.icomm.ca/geneinfo/chrom.html

File Not Found We're sorry, but the file you're looking for can't be found. You might want to try starting at our front page or a list of iComm accountholders , or you can search the site This site was last updated on 30 August 2002. iComm Questions regarding the iComm web site should be sent to our webmaster

17. Human Chromosomal Disorders Human chromosomal disorders April 17, 2002. 3. Distinguish between the chromosomalalterations that are involved in the following human disorders http://www.biology.iupui.edu/biocourses/N100/2k2humancsomaldisorders.html

Human Chromosomal Disorders April 30, 2003 Readings: Web Notes Only! I. Karyotype Analysis of Human Chromosomes Karyotype preparation and analysis Cells (from blood, amniotic fluid, etc) are grown in vitro (in a cell culture dish) to increase their number Cell division is then arrested in metaphase with colchicine (prevents mitotic spindle from forming) Cells are centrifuged and lysed to release chromosomes Chromosomes are stained, photographed, and grouped by size and banding patterns This is a photograph of the 46 human chromosomes in a somatic cell, arrested in metphase. Can you see that they are duplicated sister chromatids 2. Normal male karyotype (a Cytogeneticist has lined these chromosomes up, matching homologues up and arranging them by size) 3. Normal female karyotype II. Alterations in chromosome number: Nondisjunction occurs when either homologues fail to separate during anaphase I of meiosis, or sister chromatids fail to separate during anaphase II. The result is that one gamete has 2 copies of one chromosome and the other has no copy of that chromosome. (The other chromosomes are distributed normally.) If either of these gametes unites with another during fertilization, the result is

18. 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

19. VYSIS, INC. INTRODUCES NEW GENETIC TEST FOR ANALYZING CHROMOSOMAL DISORDERS BEFO Charlene Birkeland Versaggi Biocommunications ® 415/5471320. VYSIS, INC. INTRODUCESNEW GENETIC TEST FOR ANALYZING chromosomal disorders BEFORE CONCEPTION. http://www.vysis.com/whatsnew_pr8.asp

Contacts Charlene Birkeland Versaggi Biocommunications VYSIS, INC. INTRODUCES NEW GENETIC TEST FOR ANALYZING CHROMOSOMAL DISORDERS BEFORE CONCEPTION Provides Researchers with Ability to Analyze Polar Bodies for Most Common Chromosomal Abnormalities Leading to IVF Failures SAN FRANCISCO, October 5, 1998 - Vysis, Inc., (Nasdaq: VYSI) today introduced its MultiVysion™ PB assay, a new genetic test that can be used to identify chromosomal abnormalities in polar bodies, genetic material released by the ovum prior to, and immediately following, fertilization. Now available under the U. S. Food and Drug Administration-regulated class, Analyte Specific Reagent (ASR), the MultiVysion PB reagent may help increase the success of in vitro fertilization (IVF) by avoiding the implantation of embryos that contain an abnormal number of a specific chromosome, a condition known as aneuploidy. The announement was made here at the 54th Annual Meeting of the American Society of Reproductive Medicine.

20. Chromosomal Disorders Advertisement. chromosomal disorders Guide picks. Chromosomes hold thegenetic keys to all of the body's functions. There may be errors http://lupus.miningco.com/cs/chromosomeproblem/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Chromosomal disorders Guide picks Chromosomes hold the genetic keys to all of the body's functions. There may be errors on any of the body's 23 pairs of chromosomes, such as broken or missing pieces or too many pieces or copies. Links below are grouped by chromosome number. Chromosome 2 Disorders Links to information and resources for disorders of Chromosome 2. Chromosome 3, 4, 5 disorders Links to information and resources for syndromes associated with Chromosomes 3, 4, or 5. Abetalipoproteinemia (Chromosome 4) An error on Chromosome 4 produces this disorder, in which fats are absorbed but can't be broken down by the body. Also known as Bassen-Kornzweig syndrome. Chromosome 8, 9, 10 disorders

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