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Chromosomal Disorders:     more detail

Cytogenetic & Molecular Analysis of Chromosomal Rearrangements Associated With Neuropsychiatric Disorders (Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, 1091) by Dmitry Tentler, 2001-12 Chromosomal abnormalities: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle, MS, CGC Bosworth, 2005 New Chromosomal Syndromes (Chromosomes in biology and medicine) by Yunis, 1977-06 Sex differentiation and chromosomal abnormalities (Birth defects original article series) Musculoskeletal Disorders: Icd-10 Chapter Xvii: Congenital Malformations, Deformations and Chromosomal Abnormalities Chromosomal deletion more common in prison population.(Forensic Psychiatry): An article from: Clinical Psychiatry News by Joyce Frieden, 2005-03-01 Chromosomal abnormalities: An entry from Thomson Gale's <i>Gale Encyclopedia of Science, 3rd ed.</i> by Antonio Farina, Brenda Wilmoth Lerner, et all 2004 Data Book of Chromosomal Test in Vitro by Motoi Ishidate, 1988-04

lists with details

81. Preimplantation
    by testing for agerelated chromosomal disorders, also called aneuploidy, the presence or absence of a certain number of chromosomal disorders,  
    http://www.smcma.org/Bulletin/BulletinIssues/April04issue/Preimplantation.html
    
    Extractions: Preimplantation Genetic Diagnosis By Christo Zouves, M.D. T he ability to fertilize egg and sperm outside the human body has changed the face of human reproduction forever. Since the birth of the first IVF (in vitro fertilization) baby in 1978 more than 300,000 children have been born through Assisted Reproduction. We can now remove eggs from one female to help another achieve pregnancy; we can remove sperm directly from the testicle allowing men to father a child who would otherwise not be able to. We can inject a single sperm into an egg to promote fertilization, virtually eliminating severe male factor and most vasectomy reversals. We can transfer the gametes of one couple to a host uterus allowing implantation and pregnancy to occur. The technology of manipulating gametes has become more sophisticated, and from injection of a single sperm (ICSI), we have now moved to the molecular level where we are removing the nucleus and shortly individual chromosomes and genes. The newest breakthroughs in Assisted Reproduction include a renewed focus on the mind/body connection to fertility, advances in genetics including preimplantation genetic diagnosis (PGD), stem cell research, cloning, and gene therapy as well as advances in storage, specifically the storage of eggs and ovarian tissue.

82. CSIRO PUBLISHING - Books & CDs
    The chromosomal disorders featured are trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome) and Klinefelter syndrome; and the singlegene disorders are  
    http://www.publish.csiro.au/nid/18/pid/3600.htm
    
    Extractions: The explosion of knowledge in human genetics and applications of genetic technologies has resulted in a proliferation of concepts that are often difficult to impart in the limited context of lecture-based teaching. Furthermore, although we can engage students in discussions on the social and ethical issues in genetics, there is often reluctance to participate actively in a large group. Medical Genetix is an innovative multimedia program for undergraduate medicine and biomedicine students that presents the concepts of human genetics and heredity within the clinical context of various chromosomal and single-gene disorders. The chromosomal disorders featured are trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome) and Klinefelter syndrome; and the single-gene disorders are cystic fibrosis, Duchenne muscular dystrophy, Huntington disease and beta-thalassaemia. Building on basic molecular biology – knowledge of the structure of DNA and genes, transcription and translation is assumed – Medical Genetix presents the science of genetics and heredity in a consistent modular framework across each of the clinical disorders. The three main modules and their sections are:

83. Developmental Disability And Mental Retardation ResearchDevelopmental Disability
    Laboratory aims at medical,sociological and educational research of developmental disabilitiesmental retardation with chromosomal abnormality,autistic disorders,physical developmental disorders,intoxication.  
    http://www.matsuishi-lab.org
    
    Extractions: The first of our research theme is the examinations of the medical causes of developmental disability, particularly mental retardation with chromosomal abnormality. The second is the epidemiological study in Yokohama City , the second largest city in Japan with the population of 3.4 million.The third is the study on the autistic disorders, particularly its social aspects and the clinical classification of this disorder. The fourth theme is the relationship and collaboration between education and medicine, particularly special education. We plan to use these research results for medical treatment and educational process. We present the results of our research and would like to discuss those medical and social problems presented from international point of view.

84. Using Karyotypes To Predict Genetic Disorders
    Examples of genetic disorders caused by chromosomal deletions are. Cri du chat Syndrome Williams Syndrome. In some cases, genetic material is missing  
    http://gslc.genetics.utah.edu/units/disorders/karyotype/karyotypeinfo.cfm
    
    Extractions: Home About Us Feedback ... What Can Our Chromosomes Tell Us? Using Karyotypes to Predict Genetic Disorders A normal human karyotype has 46 chromosomes : 22 pairs of autosomes and 2 sex chromosomes. What happens when a person has something different, such as: To understand how our cells might end up with too many or too few chromosomes, we need to know how the cells normally get 46 chromosomes. First we need to understand meiosis . Meiosis is the cell division process that produces egg and sperm cells ( gametes ), which normally have 23 chromosomes each. Open in new window

85. What Can Our Chromosomes Tell Us?
    Examples of genetic disorders caused by chromosomal abnormalities. Down Syndrome Turner Syndrome Klinefelter Syndrome Cri du chat Syndrome  
    http://gslc.genetics.utah.edu/units/disorders/karyotype/
    
    Extractions: Home About Us Feedback ... Genetic Disorder Corner What Can Our Chromosomes Tell Us? We can learn a lot by looking at chromosomes ! They can tell us everything from the gender of a person to the likelihood that an unborn baby will have a genetic disorder . Scientists often analyze chromosomes in prenatal testing and in diagnosing specific diseases. Follow the links to find out what we can learn from our chromosomes. What are chromosomes? How do scientists read chromosomes? Making a karyotype Using karyotypes to predict genetic disorders Examples of genetic disorders caused by chromosomal abnormalities: Down Syndrome Turner Syndrome Klinefelter Syndrome Cri du chat Syndrome ... Robertsonian Translocation

86. Birth Defects - Trisomy Disorders
    A trisomy is a chromosomal disorder characterised by an additional chromosome, so the person has 47 instead of 46. Down syndrome, Edward syndrome and Patau  
    http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Birth_defects_tri

87. BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS
    chromosomal Disorder, Balanced Translocation 6, 11 chromosomal Disorder, Deletion, Chromosome 11 chromosomal Disorder, Deletion, Chromosome 12  
    http://medschool.umaryland.edu/BTBank/gldisorders.html
    
    Extractions: BRAIN AND TISSUE BANK FOR DEVELOPMENTAL DISORDERS Department of Pediatrics, Room 10-035 BRB University of Maryland, Baltimore 655 W. Baltimore Street Baltimore, MD 21201 (410)-706-1755 (800)-847-1539 FAX: (410)-706-0020 e-mail: btbumab@umaryland.edu in contract to: THE NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT NATIONAL INSTITUTES OF HEALTH

88. DOC16 || What Are DOC16 Disorders?
    Full Trisomy 16 a chromosomal disorder in which an individual has three copies 16p+ (sixteen p plus) an extremely rare chromosomal disorder in which  
    http://www.trisomy16.org/html/whatare.html
    
    Extractions: Every cell in the body should contain 23 pairs of chromosomes, which carry our hereditary material. Therefore, there should be two 16 chromosomes in each cell in the body. Sometimes, however, a chromosomal aberration can occur. Disorders associated with chromosome 16 abnormalities include: A: Numerical Abnormalities Full Trisomy 16: a chromosomal disorder in which an individual has three copies of chromosome 16 instead of the usual two. Trisomy 16 is not compatible with life and is the most common chromosomal cause of miscarriages (causing over 100,000 miscarriages annually in the U.S. alone). Mosaic Trisomy 16: an extremely rare chromosomal disorder in which an extra chromosome 16 is present in some, but not all, of the cells of the affected individual's body. The affects of the disorder vary greatly, but some of the more common characteristics include intrauterine growth retardation (IUGR) and congenital heart defects. Mosaic Trisomy 16 Confined to the Placenta (CPM): a condition in which the chromosome 16 abnormality is believed to be present only in the placental tissues.

89. Welcome To S.O.F.T Ireland Online
    Related disorders In addition to trisomy 13 and trisomy 18, there are a number of (a) an extra piece of chromosomal material is present in each cell,  
    http://www.softireland.com/trisomy.htm
    
    Extractions: Babies have been born with trisomy13 and trisomy18 since the beginning of time, but it was only 1n 1960 that Dr. Patau and Dr. Edwards identified the respective features of these syndromes. Both syndromes are the result of an extra 13th or 18th chromosome, respectively, being present in each cell. One in four of all pregnancies ends in miscarriage and a high proportion are thought to be caused by a chromosomal disorder. A high proportion of trisomy 13 and trisomy 18 pregnancies end in miscarriage within twelve weeks of conception. It is therefore quite rare for such a pregnancy to continue to full term. The incidence of trisomy 13 is 1 in 10,000 of total births while that of trisomy 18 is about 2.5 in 10,000 of total births. In Ireland both North and South, there are approximately seven babies born with trisomy 13 and seventeen babies born with trisomy 18 every year. As the female X chromosome is more viable, there are more girls than boys.

90. THE MERCK MANUAL, Sec. 19, Ch. 261, Congenital Anomalies
    A chromosomal disorder usually resulting in mental retardation, a characteristic facies, A chromosomal disorder resulting from an extra chromosome 18,  
    http://www.merck.com/mrkshared/mmanual/section19/chapter261/261l.jsp

91. Chromosome Disorders
    Chromosome disorders. 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,  
    http://rarediseases.about.com/od/chrosomedisorders/
    
    Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Information by Disease Type Chromosome Disorders Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases 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 (1-22 and sex chromosomes). Alphabetical Recent Up a category Wolf-Hirschhorn Syndrome (Chromosome 4) Article describes Wolf-Hirschhorn syndrome, its symptoms, diagnosis, and treatment. Cri-du-chat Syndrome (Chromosome 5) Article describes cri-du-chat syndrome, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. Chromosome 9p Network Provides information, guest book, news, and links.

92. Chromosomal Disorder --  Encyclopædia Britannica
    chromosomal disorder any syndrome characterized by malformations or malfunctions in any of the body s systems, and caused by abnormal chromosome number or  
    http://www.britannica.com/eb/article-9082455
    
    Extractions: Home Browse Newsletters Store ... Subscribe Already a member? Log in Content Related to this Topic This Article's Table of Contents chromosomal disorder 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%! More Britannica products chromosomal disorder  Encyclopædia Britannica Article Page 1 of 1 any syndrome characterized by malformations or malfunctions in any of the body's systems, and caused by abnormal chromosome number or constitution. Normally, humans have 46 chromosomes arranged in 23 pairs; the pairs vary in size and shape and are numbered by convention. Twenty-two of the pairs are autosomes

93. TS1
    Turner Syndrome is a chromosomal disorder that affects approximately 1 in every To help you to understand what a chromosomal disorder is, you need to be  
    http://www.alumni.ca/~saade3s/index1.html
    
    Extractions: In 1938 an American doctor, Henry Turner, published his first report on seven girls who exhibited similar features of the syndrome he was describing. A syndrome is a set of features in association with each other that result from a stem cause. Though Dr.Turner knew very little about this condition, he did recognize in all of the girls a pattern of short stature and he identified many of the features of this condition. Even though Dr. Turner discovered this condition he was unable to find a cause for it. It was not until 1959 that Dr. C. E. Ford discovered the cause for Turner Syndrome. The first type of Turner Syndrome is Monosomy or Classic Turner Syndrome. This is the most common type of Turner Syndrome affecting about 50% of all Turner Syndrome cases. Girls with this form of Turner Syndrome show more of the physical features caused by this syndrome which I will go over later. Monosomy Turner Syndrome occurs when there is one X chromosome from the 23rd pair of chromosomes completely missing in every cell. The second type of Turner Syndrome is called Mosaicism. Mosaics make up about 30-40% of all turner Syndrome cases. Mosaics tend to show the least number of physical features and medical conditions that are associated with Turner Syndrome. Girls with Mosaic Turner Syndrome will have many cells with the normal 46 chromosomes while some others will have only 45 chromosomes or one slightly altered 46th chromosome. 20% of these females will menstruate naturally but may have early menopause beginning in their late 20’s or early 30’s. Although it is not very common, some females with Mosaic Turner Syndrome may become pregnant and deliver perfectly healthy children.

94. Case Based Pediatrics Chapter
    What chromosomal disorder can present as bilateral cleft palate, cleft lip and a What chromosomal disorder(s) can present with bilateral cleft palate,  
    http://www.hawaii.edu/medicine/pediatrics/pedtext/s04c03.html
    
    Extractions: A two day old male infant is referred from a community hospital for bilious vomiting and a heart murmur. The baby was born at 37 weeks gestation to a G4P3 39 year old woman who had no prenatal care. Exam: VS T37.1 (ax), P150, R45, BP 75/50, oxygen saturation 99% in room air. Height, weight and head circumference are at the 50th percentile. He appears jaundiced, and has a flat facial profile; short, upslanting palpebral fissures; a flat nasal bridge with epicanthal folds; a small mouth with protruding tongue; and single palmar creases. His lungs are clear to auscultation. His heart is tachycardic with a loud holosystolic murmur. His abdomen is non-distended. Generalized hypotonia is present. An abdominal radiograph shows a "double-bubble sign". Duodenal atresia is suspected. A nasogastric tube is placed and IV fluids are administered. He later undergoes a duodenoduodenostomy. An echocardiogram demonstrates a ventricular septal defect, which is medically managed. A chromosomal abnormality is suspected and a karyotype is done. Trisomy 21 is diagnosed. This chapter deals with some of the more common chromosomal abnormalities encountered in clinical practice. While the infant described above has trisomy 21, or Down syndrome, other disorders of chromosomes include trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), XXY (Klinefelter syndrome), 45X (Turner syndrome), Noonan syndrome, XYY syndrome and Fragile X syndrome.

95. Chromosome 3, Monosomy 3p2
    Chromosome 3, Monosomy 3p2 is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or  
    http://www.bchealthguide.org/kbase/nord/nord993.htm
    
    Extractions: It is possible that the main title of the report Chromosome 3, Monosomy 3p2 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Chromosome 3, Monosomy 3p2 is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated features often include growth delays before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (craniofacial) region; eyebrows that grow together (synophrys); and/or excessive hair growth (hypertrichosis). Additional physical abnormalities may also be present. In many cases, Chromosome 3, Monosomy 3p2 appears to occur spontaneously (de novo) for unknown reasons. Children's Craniofacial Association

96. MSN Encarta - Related Items - Chromosome
    chromosomes in singlecell organisms genetic engineering mapping human genomes mutations pictures related to chromosomes  
    http://encarta.msn.com/related_761566230/Chromosome.html
    
    Extractions: var fSendSelectEvents = true; var fSendExpandCollapseEvents = true; var fCallDisplayUAText = false; Web Search: Encarta Home ... Upgrade your Encarta Experience Search Encarta Related Items from Encarta Chromosome Genetics Heredity see also Plasmid see alsoHuman Genome Project ... , study of the function and behavior of genes. Genes are bits of biochemical instructions found inside the cells of every organism from... View article © 2005 Microsoft MSN Privacy Legal Advertise Feedback ... Help

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