Turner Syndrome / Family Village Library The turner syndrome Society of the United States is a young organization whose with male children who have been diagnosed with mosaic turner syndrome. http://www.familyvillage.wisc.edu/lib_turn.htm
Extractions: Web: http://www.turner-syndrome-us.org/ The Turner Syndrome Society of the United States is a young organization whose membership has quickly grown into the thousands. More than 38 chapters and 18 support groups are active across the country, with many other in the process of organizing. The Society is a non-profit organization whose mission is to: Increase public awareness and understanding of Turner Syndrome; Increase understanding of those affected by Turner Syndrome about the condition and its associated problems; Provide a forum where those affected by Turner Syndrome can become acquainted with others in similar situations and thereby gain some understanding of how to cope with the problems created by the condition; and Work together with medical and health-care professionals to better understand the condition through research and communication of ideas.
OTHER CONSTITUTIONAL CHROMOSOME DISEASES 1/3 of BU are found in turner syndrome, and 75 % of turner have a BU In the presence traits have the same frequency in turner syndrome and in the male, http://www.infobiogen.fr/services/chromcancer/IntroItems/PolyConstitAutreEngl.ht
Extractions: Home Genes Leukemias Tumors ... Teaching GENERAL COMMENTS Imbalances concerning gonosomes are less deleterious than those affecting autosomes; Imbalances leading to an excess of gene dosage (i.e. duplications, trisomies) are less deleterious than those resulting in a deficit (i.e. deletions, monosomies). Bias of sampling: the most deleterious chromosome imbalances are not seen but result in early miscarriages; miscarriages and stillbirths occur in other syndromes, and only the less deleterious are compatible with life. Some signs are characteristic of the disease. They are due to a gene effect or to the combination of genes effects. their association can be called a contiguous gene syndrome (see below). Other signs are aspecific of the region involved; they are the result of general gene imbalance and/or cell division disturbances, and may be found in many chromosome syndromes: growth retardation, microcephaly, mental retardation, low set ears ... can be found in various disease with no gene similarity. Type/contertype: trisomy 4p syndrome (not herein described) exhibit some signs which are the opposite of del(4p) syndrome (e.g. flat/high forehead, aplasic/large glabella, prognatism/microretrognatism). In trisomy 4p, genes located in 4p are in 3 sets, while in del(4p) these genes are in only 1 set. This is an example of probable gene dosage specific effects.
Human Genetics - Chromosomal Inheritance 2 turner syndrome (45,X) is the most frequent chromosomal abnormality. Klinefelter syndrome (47, XXY) occurs in about 1/850 male births. http://www.uic.edu/classes/bms/bms655/lesson10.html
Extractions: HUMAN GENETICS for 1st YEAR STUDENTS n humans the normal female has two X chromosomes, while the normal male has only one X chromosome. If a gene is on the X chromosome, isn't it logical that there would be twice the gene product in females than there is in males? This was a question that remained unanswered for many years. From biochemical measurements there seemed to be the roughly the same amount of gene product in both males and females. The phenomenon was called "dosage compensation." Somehow the gene knew to compensate for the sex of the individual, either make half as much product if it found itself in a female or make twice as much product if it was in a male. Dosage compensation was explained by the discoveries of Mary Lyon. The inactive X usually lies along the edge of the interphase nucleus in a highly condensed state. It is always the last to replicate. In 1948, before the discoveries of Lyon, Barr and Bertram found that in the interphase nucleus of female cat neurons there were a significant number of cells that had one "darkly staining body" lying along the edge of the nucleus, but they never found a "darkly staining body" in the neurons of male cats. Similar "darkly staining bodies" are found in buccal epithelial cells of human females, although they can usually be found in only 30% to 40% of the cells. Normal males never express these "Barr bodies." In all cases, the number of Barr bodies is one less than the number of X chromosomes in an individual. One Barr body means the individual has two X chromosomes, two Barr bodies means the individual has three X chromosomes, etc. We now know that the "darkly staining" Barr body is the condensed, inactive X chromosome.
Nutrition In Diabetes Mellitus Type I Endocrinology Sex Gonadal Dysgenesis Turners syndrome. Negative sexchromatin (male pattern). Radiology Chest XRay http://www.fpnotebook.com/END182.htm
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HealthyNJ--Information For Healthy Living In turner syndrome (gonadal dysgenesis), girls are born with one of the two X Klinefelter syndrome is a disorder in which male infants are born with an http://www.healthynj.org/dis-con/xchromosome/main.htm
Extractions: Chromosomes are structures within cells that contain a person's genes. Abnormalities in chromosomes are always genetic abnormalities. Some genetic abnormalities affect the genes, but do not alter the structure of the chromosomes. Thus, doctors often discuss chromosomal abnormalities separately from the broader category of genetic abnormalities. Some genetic abnormalities, such as sickle cell disease and cystic fibrosis, are very common. A person normally has 23 pairs of chromosomes, each containing hundreds of genes. The sex chromosomes are one of these pairs of chromosomes. Normal people have 2 sex chromosomes; each is either an X or a Y chromosome. Normal females have two X chromosomes (XX), and normal males have one X and one Y chromosome (XY). Chromosomal abnormalities can affect any chromosome, including the sex chromosomes. A chromosomal or other genetic abnormality can affect the number of chromosomes, the structure of certain chromosomes, or the composition of chromosomes (for example, genetic material from one chromosome may be attached to another). If the material found in chromosomes is balanced so that the expected amount is found in each cell, no abnormalities occur. If too much (addition) or too little (deletion) genetic material is found within each cell, abnormalities occur. These abnormalities can have profound physical effects.
Chemistry Of The Cell And Genetics This picture shows a normal male mitotic metaphase spread next to an interphasenucleus. Patients with the karyotype 46, X iXq have turner s syndrome. http://www.ucl.ac.uk/~ucbhjow/bmsi/bmsi_7.html
Extractions: We already had a look at chromosomes in lecture 1 and the following terms should be familiar: Human cells are diploid, that is they contain two of (almost) every gene. They do so by having two copies of each autosome, (chromosomes 1-22) and two sex chromosomes (either XX or XY). The normal human karyotype when viewed down the microscope at mitotic metaphase is thus either 46 XX or 46 XY. (Meaning 46 coloured blobs, two of which are XX or XY). This picture shows a normal male mitotic metaphase spread next to an interphase nucleus. The primary constriction is the centromere, visible in the above picture as the point where the two chromatids remain attached, but also containing the kinetochore , the point of spindle attachment. Secondary constrictions are usually only found as the stalks connecting the short arms of the two groups of acrocentric chromosomes. When microscopes were improved to the point that the human karyotype could be reliably discerned (in the 1950s) the chromosomes could be grouped on the basis of their relative sizes and the relative lengths of their two arms, i.e. the positions of their centromeres. Now, banding techniques make it possible to identify each chromosome. If chromosomes are treated briefly with proteinase before staining then each chromosome has a characteristic banding pattern.
Zinn Lab Home Page The turner syndromeassociated neurocognitive phenotype maps to distal Xp. Am J Morc is expressed specifically in male germ cells of humans and mice, http://www.swmed.edu/home_pages/facultystaff/zinn/
Extractions: The lab of Andrew Zinn, M.D., Ph.D. studies genetic disorders of human growth and reproduction. The lab focuses on three main projects: This human chromosome disorder involving the loss of one sex chromosome affects 1/2000 to 1/5000 live born girls and is a major cause of pregnancy wastage. Principle features include short stature, infertility, anatomic abnormalities, and specific deficits in visual-spatial and certain other cognitive abilities. We are collaborating with Dr. Judith Ross, M.D. at Thomas Jefferson University in Philadelphia to map specific genes responsible for various features of Turner syndrome by characterizing subjects with partial X deletions ("experiments of nature"). A related project involves the possible role of X-linked genes in premature menopause, a condition that affects at least one in every three hundred women. Fluorescent in situ hybridization of chromosomes
Log In Problems Monosomy X has been known to be the chromosomal basis of turner syndrome (TS) 13 The sex chromosomes pair and recombine in PAR1 during male meiosis, http://www.medscape.com/viewarticle/410899
Klinefelter's Syndrome - An Orientation PUBLISHED BY THE NATIONAL SOCIETY OF turner CONTACT GROUPS IN DENMARK Should males with Klinefelter s syndrome have fully detailed information? http://www.aaa.dk/TURNER/ENGELSK/KLINE.HTM
Extractions: CONTENTS Introduction The name Klinefelter's syndrome How frequent is Klinefelter's syndrome? What is the cause of Klinefelter's syndrome? ... Literature about Klinefelter's syndrome This booklet was written and published in the light of a tremendous need for further information on Klinefelter's syndrome. It is in no way an attempt of giving a complete description of all aspects of Klinefelter's syndrome. The booklet was written in order to give a better information to Klinefelter-boys and their parents as well as to adult males with Klinefelter's syndrome, but it is also our hope that it will be read by genetic counsellors, physicians, teachers and others who come into contact with boys and adult males with Klinefelter's syndrome. More information on all levels will, however, first and foremost be valuable to Klinefelter-males and their relatives. Publication by the Danish National Society of Turner Contact Groups should be seen as an expression of this society's wish to participate in the spreading of knowledge of Klinefelter's syndrome and create the possibility of establishing Klinefelter contact groups. Furthermore, to make an information, counselling and research center for people with Turner's syndrome and other sex chromosome abnormalities such as Klinefelter's syndrome, triple-X and XYY syndrome. Johannes Nielsen Back to Contents
XYY Males - An Orientation XYY males. AN ORIENTATION. PUBLISHED BY THE turner CENTER, RISSKOV, DENMARK Klinefelter s syndrome with an extra Xchromosome (47,XXY) and turner s http://www.aaa.dk/TURNER/ENGELSK/XYY.HTM
Extractions: CONTENTS Introduction The name XYY males? How frequent is XYY? What is the cause of XYY? ... Literature about XYY males This booklet was written and published in the light of a tremendous need for further information about XYY males. It is in no way an attempt of giving a complete description of all aspects of XYY males. The booklet was written in order to give a better information to XYY boys and their parents as well as to adult XYY males, but it is also our hope that it will be read by genetic counsellors, physicians, teachers and others who come into contact with XYY boys and adult XYY males. More information on all levels will, however, first and foremost be valuable to XYY males and their relatives. Publication by the Turner Center in Risskov, Denmark, should be seen as part of the work in this center with information, counselling and research concerning Turner and triple-X females, Klinefelter and XYY males. Johannes Nielsen Back to Contents The name XYY males Klinefelter's syndrome with an extra X-chromosome (47,XXY) and Turner's syndrome with lack of X-chromosome material (45,X) have their names after the physicians who first described the syndromes in 1942 and 1937, respectively. Since 1960 geneticists have given new names to chromosome aberrations from the chromosome constitution and not as previously from the name of the person who first described the chromosome aberration.
AllRefer Health - Noonan Syndrome (Turner-Like Syndrome Of Males) Noonan syndrome (turnerLike syndrome of Males) information center covers causes,prevention, symptoms, diagnosis, treatment, incidence, risk factors, http://health.allrefer.com/health/noonan-syndrome-info.html
Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Turner-Like Syndrome of Males Definition Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Pectus Excavatum Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called , was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome.
Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia
Dr. Koop - Noonan Syndrome turnerlike syndrome of males. Causes, incidence, and risk factors. Noonan syndromecan be inherited in an autosomal dominant manner. http://www.drkoop.com/ency/93/001656.html
Extractions: Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Injury Disease Nutrition Poison ... Prevention Definition: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Causes, incidence, and risk factors: Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called , was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital
Genetic Features Of Turner Syndrome turner syndrome is a disorder caused by the loss of genetic material They areresponsible for the difference in development between males and females. http://turners.nichd.nih.gov/GeneticText2.html
Extractions: T urner syndrome is a disorder caused by the loss of genetic material from one of the sex chromosomes. Humans normally have a total of 46 chromosomes (which are tiny, DNA-containing elements) that are present in every cell of the body. DNA encodes genes, which specify all the proteins that make up the body and control its functions. In humans, there are 23 matched pairs of chromosomes in every cell. Each cell contains 22 pairs of chromosomes called autosomes that are the same in males and females. The remaining pair of chromosomes, the X- and Y-chromosomes, are not shaped similarly, and thus are not matched in the same way as the autosomes. The X- and Y-chromosomes are called sex chromosomes. They are responsible for the difference in development between males and females. A Y-chromosome contains genes responsible for testis development; and the presence of a X-chromosome paired with a Y-chromosome will determine male development. On the other hand, two X-chromosomes are required for normal ovarian development in females. D uring the process in which oocytes (eggs) or sperm are formed, one of the sex chromosomes is sometimes "lost" (see
Turner Syndrome Y chromosomes are usually present only in males. When turner syndrome patientshave pieces of aY chromosome in their cells, they have a substantially http://www.chclibrary.org/micromed/00069390.html
Extractions: Chromosomes are structures in the nucleus of every cell in the body. Chromosomes contain the genetic information necessary to direct the growth and functioning of all the cells and systems of the body. A normal person has a total of 46 chromosomes in each cell, two of which are responsible for determining the sex of that person. Normally, females have two X chromosomes and males have one X and one Y chromosome. In Turner syndrome, an error very early in development results in an abnormal number and arrangement of chromosomes. Most commonly, a patient with Turner syndrome will be born with 45 chromosomes in each cell rather than 46. The missing chromosome is an X chromosome. About 1 in every 8,000 babies born has Turner syndrome. No cause has been identified for Turner syndrome. At birth, female babies with Turner syndrome are below average in weight and length. They have slightly swollen hands and feet, and sometimes have swelling at the nape of the neck. Girls with Turner syndrome are shorter than normal, and have short, webbed necks with extra, loose skin. The jaw is usually small and the ears are large. An extra fold of skin is often seen on either side of the nose, close to the eye (called an epicanthic fold). The chest is usually quite broad, with increased distance between the nipples.
► Noonan Syndrome Alternative Names. turnerlike syndrome of males Because these abnormalitiesresemble those of turner syndrome (which only affects females), http://www.umm.edu/ency/article/001656.htm
Extractions: Toggle English Spanish Overview Symptoms Treatment Prevention Definition: A genetic syndrome that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Causes, incidence, and risk factors: Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, i.e., presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called PTPN11, was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital
Noonan Syndrome Alternative Names. turnerlike syndrome of males Because these abnormalitiesresemble those of turner syndrome (which only affects females), http://www.ehendrick.org/healthy/001656.htm
Extractions: Injury Disease Nutrition Poison ... Prevention Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Turner-like syndrome of males Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called , was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital heart disease (especially pulmonic stenosis ). Because these abnormalities resemble those of Turner syndrome (which only affects females), Noonan syndrome used to be called "male Turner syndrome," this term is no longer used because Noonan syndrome can affect females also.
Noonan Syndrome Medical Information Alternative Names. turnerlike syndrome of males If there are any signs ofNoonan or turner syndrome ask your health care provider for the name of a http://www.drugs.com/enc/noonan_syndrome.html
Extractions: Advanced Search Or click the first letter of a drug name: A B C D ... Z Injury Disease Nutrition Poison ... Pectus excavatum Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Causes Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, the presumed occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called PTPN11, was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently-seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital
The Hormone Foundation Endocrinology And Turner Syndrome turner syndrome can cause physiologic and psychological problems that can Both males and females have at least one copy of an X chromosome while only http://www.hormone.org/resources/fact_sheets/turner.htm
Extractions: Turner syndrome can cause physiologic and psychological problems that can affect normal development and maturation in females, even if it is not usually life-threatening. Effective treatment is available to minimize some of these effects and reduce many of the associated symptoms, if it is started soon enough. It is important to identify those with Turner syndrome early so that treatment can begin and promote normal growth and development as girls enter puberty. What is Turner Syndrome? Turner syndrome occurs in females when one of the X (female) chromosomes is missing or damaged. Typically, females have two X chromosomes (XX). These chromosomes not only determine the sex of a person but also have other influences. Sexual definition affects physiologic growth and development as well psychological development. The most common features of Turner syndrome are short stature and reduced or absent development of the ovaries. As adults, women with this disorder are typically infertile. Other complications of Turner syndrome include defects of the kidneys and/or heart, thyroid disease, arthritis and skeletal disorders, and development of type 2 diabetes. As children, the onset of puberty is delayed if the disorder has not been identified and treatment begun. Such delays in sexual development may lead to poor social development and low self esteem. In addition, some girls may experience learning difficulties, particularly in the subject of mathematics. Problems such as underactive thyroid glands, abnormal liver function tests, a propensity to ear infections and hearing deficits, can also be seen. Symptoms may vary widely among those affected.
Turner Syndrome turner syndrome is a genetic disorder caused by the lack of an X chromosome. turner syndrome only affects females. Because females with turner syndrome http://atoz.iqhealth.com/HealthAnswers/encyclopedia/HTMLfiles/2748.html