Noonan S Syndrome And Seminoma Of Undescended Testicle Noonan s syndrome also called male turner s syndrome, pseudoturner s syndrome,Ullrich turner s syndrome, or cardiofacial syndrome was first described http://www.medscape.com/viewarticle/410764_3
Blackwell Synergy - Cookie Absent 11. Graham BH, Bacino CA. male patient with nonmosaic deleted Y chromosome andclinical features of turner s syndrome. Am J Med Genet 2003 119A 234-237. http://www.blackwell-synergy.com/links/doi/10.1046/j.1399-0004.2003.00173.x/full
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Searle Scholar Profile David C. Page (1989) turner syndrome appears to be the result of monosomy for that probably contains oneor more turner genes. Ribosomes from human male tissues contain both the X http://www.searlescholars.net/people/page.html
Genetic Features Of Turner Syndrome of a Xchromosome paired with a Y-chromosome will determine male development. onlya X-chromosome may survive and develop as a female with turner syndrome. 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
Entrez PubMed bone metabolism in patients with Noonan s syndrome which comprises turner s phenotypiccharacteristics indices of bone turnover in two male patients with http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Abnormal Sex Differentiaton - Disorders Of Sex Differentiation For example, girls with turner syndrome have a 45,XO karyotype and boys with Klinefeltersyndrome have a when it is stated that 46,XY refers to male sex and http://www.hopkinsmedicine.org/pediatricendocrinology/intersex/sd3.html
Extractions: Contents Title Page Introduction Normal Sex Differentiation Disorders of Sex Differentiation ... Return to Pediatric Endocrine Sex differentiation is a complex physiological process comprised of many steps. Problems associated with sex differentiation, or syndromes of intersexuality, occur when errors in development take place at any of these steps. Genetic Sex Problems can arise at fertilization when chromosomal sex is established. For example, girls with Turner Syndrome have a 45,XO karyotype and boys with Klinefelter Syndrome have a 47,XXY karyotype. It is also known that some women have a 46,XY or 47,XXX karyotype and some men a 46,XX or 47,XYY karyotype. Clearly then, when it is stated that 46,XY refers to male sex and 46,XX refers to female sex, this is a generalization which applies to most, but not all, individuals. Gonadal Sex Disorders of sex differentiation can occur when a bipotential gonad is incapable of developing into a testis or an ovary. The inability to develop testes may occur if a gene such as SRY is absent or deficient. When this is the case, a 46,XY fetus will not receive the SRY signal to develop testes despite the presence of a Y chromosome. Additionally, 46,XY fetuses may begin to develop testes, but this development can be thwarted, and subsequently MIS and androgen production may be absent or diminished. Finally, the normal disappearance of germ cells associated with ovarian development in fetuses is so accelerated in Turner Syndrome that by birth these babies possess gonadal streaks as opposed to normal ovaries.
Turner Syndrome Ectopic Pregnancy, Epilepsy Association, Everyman Action against male Cancer, EyeUK, Stroke Association, turner syndrome, Women s Health, Full Listing Favourites. http://www.4ni.co.uk/listing.asp?cat=39&style=0&company=96578&level1=18
Other Resources male Infertility and Diagnosis Describes basic workup for male infertilitydiagnosis. Donor Egg/Sperm. Other. turner s syndrome Society. http://www.main.org/resolve/links.html
Extractions: Monthly Meetings Peer Group Support ... Contact Us Top ** Note: This information is provided to help you with your research. These resources are not listed as recommendations or endorsements by RESOLVE, RESOLVE of Central Texas or its members. National Fertility Information/Organizations Specific Fertility Conditions /Treatments
Chromsome Analysis, Blood (Constitutional) With Reflex For Y genesis is given by Beaudet et al.2 turner s syndrome (female with The Klinefelter ssyndrome (male hypogonadism with small testicles and sterility) occurs http://www.labcorp.com/datasets/labcorp/html/chapter/mono/nf10002840.htm
Extractions: Chromsome Analysis, Blood (Constitutional) With Reflex for Y Deletion Analysis Number CPT Synonyms AZF testing reflex; Azoospermia reflex; Oligospermia reflex; DAZ reflex; male infertility reflex to chromosomes; Y Deletion reflex. Special Instructions Pertinent medical findings must accompany request for chromosome analysis. Include the patient's name, age, and suspected diagnosis. Specimen Blood Volume 5 mL (adults); 1-2 mL (neonates) Minimum Volume 2 mL Container Green-stopper (sodium heparin) tube Collection Storage Instructions Specimen should be delivered to the laboratory immediately . Maintain specimen at room temperature . Specimens may be refrigerated if there is a delay in shipment. Do not freeze Causes for Rejection Hemolysis; specimen clotted, use of improper anticoagulant; frozen specimen Use Chronic Myelogenous Leukemia Methodology Lymphocyte culture, mitogen stimulation, colchicine arrest of cells in mitosis with predominantly early metaphases, methanol/acetic acid fixation, spread preparation, trypsin- Giemsa banding, chromosome analysis of 20 metaphases with preparation and analysis of multiple karyotypes. Other banded preparations are made as needed. Fluorescence in situ hybridization (FISH) applied as needed.
Morgagni-Turner-Albright Syndrome (www.whonamedit.com) Morgagniturner-Albright syndrome Congenital endocrine disorder with short stature, absence of secondary sexual characteristics, failure of sexual maturation, webbing of the neck and inconsistent http://www.whonamedit.com/synd.cfm/1064.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Chromosome XO syndrome, congenitally absent ovaries, genital dwarfism, gonadal agenesis, gonadal dysgenesis, monosomy X syndrome, ovarian aplasia, ovarian dwarfism, ovarian short stature syndrome, primary ovarian insufficiency, pseudonuchal infantilism, pterygolymphangiectasia syndrome, pterygonuchal infantilism, rudimentary ovary syndrome, XO syndrome. Congenital endocrine disorder caused by failure of the ovaries to respond to pituitary hormone stimulation. Clinically there is short stature (105-130 cm); absence of secondary sexual characteristics, with infantile development of the vagina, uterus and breast; failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. Intelligence may be impaired. Ocular abnormalities include strabismus and nystagmus; cardiac abnormalities are coarctation of aorta (70%), or other cardiovascular lesions almost constantly affecting left heart. Lymphedema of extremities (30-40%). Occasionally, anomalies of bone development such as protuberance of sternum, high palate, underdeveloped mandible.
EMedicine - Turner Syndrome : Article Excerpt By: Daniel Postellon, MD turner syndrome In 1938, Henry turner first described turner syndrome, which is one of the most common chromosomal abnormalities. More than 95% of adult women with turner syndrome exhibit short http://www.emedicine.com/ped/byname/turner-syndrome.htm
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: Turner's syndrome, 45 X karyotype, Bonnevie-Ullrich syndrome, gonadal dysgenesis, monosomy X, XO syndrome Background: In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities. More than 95% of adult women with Turner syndrome exhibit short stature and infertility. Pathophysiology: Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. In patients with 45 X karyotype, about two thirds are missing the paternal X chromosome. In addition to monosomy X, a similar clinical picture is found with a 46 XXiq karyotype and in some individuals with mosaic karyotypes. A deletion of the SHOX gene can cause an identical phenotype and also may be considered as a variety of Turner syndrome. Frequency:
XYY Males - An Orientation The name XYY males Klinefelter s syndrome with an extra Xchromosome (47,XXY) andTurner s syndrome with lack of X-chromosome material (45,X) have their names 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.
Klinefelter's Syndrome - An Orientation and foremost be valuable to Klinefeltermales and their the Danish National Societyof turner Contact Groups of knowledge of Klinefelter s syndrome and create 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
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, signs, tests, support groups, complications, http://www.1uphealth.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.
Turner Syndrome Y chromosomes are usually present only in males. When turner syndrome patients havepieces of aY chromosome in their cells, they have a substantially increased 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.
What If We Have Too Many Or Too Few Chromosomes? Individuals with turner s syndrome have a single X Individuals with Klinefelter ssyndrome have XXY sex They develop as males, with subtle phenotypic anomalies http://gslc.genetics.utah.edu/units/disorders/karyotypeold/abnormal.cfm
Extractions: Home ... karyotypeold What if We Have Too Many or Too Few Chromosomes? Meiosis is the cell division process that produces cells that will become the egg and sperm cells of an organism. Cells produced by meiosis have half the normal number of chromosomes (each meiotic cell has one copy of each chromosome), so that when an egg and sperm fuse at fertilization, the resulting zygote has the two copies of each chromosome it needs for proper development. Sometimes during the course of normal meiosis, chromosomes are not correctly distributed from a dividing cell into the two daughter cells. When this happens, one daughter cell has twice the number of copies of that particular chromosome and the other daughter is left with no copies of that chromosome. If such a cell is later used in a fertilization event, the resulting zygote will have either a total of one of that type of chromosome (monosomy) or have three of that type of chromosome (trisomy). Abnormal numbers of chromosomes are very often incompatible with life. In general, the human body can tolerate excess genetic material more easily than it can tolerate missing genetic material. In certain cases, such as Turner's Syndrome, if individuals are identified soon enough they can be successfully treated with hormones to reduce the effects of the chromosome imbalance.
