1. Noonan's Syndrome (www.whonamedit.com) Also known as Familial Turner syndrome,Female pseudo Turner syndrome,Pseudo Turnersyndrome,male turner syndrome,Pseudo UllrichTurner syndrome,Turner-like http://www.whonamedit.com/synd.cfm/1920.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. 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. Noonan's syndrome Also known as: Familial Turner syndrome Female pseudo Turner syndrome Pseudo Turner syndrome Male Turner syndrome Pseudo Ullrich-Turner syndrome Turner-like syndrome Turner's phenotype with normal karotype Turner's syndrome in female with X-chromosome Ullrich-Noonan syndrome XX Turner phenotype syndrome Turner phenotype syndrome Associated persons: Jacqueline Anne Noonan Otto Ullrich Description: Jacquline A. Noonan and Dorothy Ehmke [American cardiologist/paediatrician] in 1963 defined the syndrome on the basis of clinical and cytogenetic findings in six boys and three girls with valvular pulmonary stenosis, short stature, hypertelorism and skeletal anomalies, and, in boys, retentio testis. In a later publication (1968) Noonan described a total of 19 patients of both sexes with unusual facies, congenital heart defect and other symptoms resembling those of Turner’s syndrome. However, the patients had normal chromosomes. While at Iowa, Noonan, together with Dorothy Ehmke, conducted a clinical investigation, which included 833 children with congenital heart disease who were carefully studied for the presence of additional extra-cardiac anomalies. Nine of these children had a similar characteristic facies and pulmonary stenosis. These patients were reported by Noonan to the Midwest Society of Pediatric Research held in Cincinnati in 1962.

2. EMedicine - Turner Syndrome : Article By Daniel Postellon, MD Noonan syndrome, sometimes inappropriately called male turner syndrome, can occurin males or females. It is an autosomal dominant disorder and is unrelated. http://www.emedicine.com/ped/topic2330.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Turner Syndrome Last Updated: June 20, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: Turner's syndrome, 45 X karyotype, Bonnevie-Ullrich syndrome, gonadal dysgenesis, monosomy X, XO syndrome AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Daniel Postellon, MD , Associate Professor, Department of Pediatrics and Human Development, DeVos Children's Hospital and Michigan State University Daniel Postellon, MD, is a member of the following medical societies: American Academy of Pediatrics American Diabetes Association , and Lawson-Wilkins Pediatric Endocrine Society Editor(s): Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

3. Noonan Syndrome,Female Pseudo-Turner Syndrome,Male Turner Syndrome,Turner Phenot Noonan Syndrome,Female PseudoTurner Syndrome,male turner syndrome,Turner Phenotypewith Normal Chromosomes (Karyotype),NS,Noonan Syndrome,Female Pseudo-Turner http://www.icomm.ca/geneinfo/noonan.htm

Noonan Syndrome,Female Pseudo-Turner Syndrome,Male Turner Syndrome,Turner Phenotype with Normal Chromosomes (Karyotype),NS,Noonan Syndrome,Female Pseudo-Turner Syndrome,Male Turner Syndrome,Turner Phenotype with Normal Chromosomes (Karyotype),NS For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Noonan Syndrome also known as: Turner-like Syndrome Female Pseudo-Turner Syndrome Male Turner Syndrome Turner Phenotype with Normal Chromosomes (Karyotype) NS (as defined by the National Organization for Rare Disorders Noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). The disorder may be characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or webbed neck; a low hairline in the back of the head; and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes (ocular hypertelorism); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a low nasal bridge; and low-set, prominent, abnormally rotated ears (pinnae).

4. Noonan Syndrome - Quest Diagnostics Patient Health Library Synonyms. Female PseudoTurner Syndrome; male turner syndrome; Turner Phenotypewith Normal Chromosomes (Karyotype); NS. Disorder Subdivisions. None. http://www.questdiagnostics.com/kbase/nord/nord412.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord412"; var hwDocTitle="Noonan Syndrome"; var hwRank="1"; var hwSectionHWID="nord412"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Noonan Syndrome Important It is possible that the main title of the report 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. Synonyms Female Pseudo-Turner Syndrome Male Turner Syndrome Turner Phenotype with Normal Chromosomes (Karyotype) NS Disorder Subdivisions None General Discussion In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity). Resources Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545

5. Noonan Syndrome be associated with both disorders, such as short stature, webbed neck, etc.), Noonansyndrome is sometimes referred to as male turner syndrome, Female Pseudo http://www.bchealthguide.org/kbase/nord/nord412.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord412"; var hwDocTitle="Noonan Syndrome"; var hwRank="1"; var hwSectionHWID="nord412"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Noonan Syndrome Important It is possible that the main title of the report 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. Synonyms Female Pseudo-Turner Syndrome Male Turner Syndrome Turner Phenotype with Normal Chromosomes (Karyotype) NS Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Cardiofaciocutaneous Syndrome Turner Syndrome Costello Syndrome Noonan-Like Multiple Giant Cell Lesion Syndrome Neurofibromatosis-Noonan Syndrome Associated Congenital Disorders (General) General Discussion In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity).

6. Noonan Syndrome Noonan Syndrome Fact Sheet by I.B.I.S. include Title and. male turner syndrome. Noonan Syndrom. Noonan Syndrome. Noonanovej Syndròm. PseudoTurner Syndrome. Pterigium Colli Syndrome http://www.ibis-birthdefects.org/start/noonan.htm

Tips for printing Noonan Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and Male Turner Syndrome Noonan Syndrom Noonan Syndrome Noonanovej Syndròm Pseudo-Turner Syndrome Pterigium Colli Syndrome Sindrome di Noonan Turner-Like Syndrome Turner Phenotype with Normal Karyotype Watson Syndrome (Neurofibromatosis) Special Resources Noonan Syndrome A Selection of Internet Sites [*] Outstanding [P] Professionals [S] Support Groups [Italian] [Slovakian] [Danish] [German] [Norwegian] [*][P] Noonan syndrome 1; NS1 OMIM. The disorder now known as Noonan syndrome bears similarities to the disorder described by Turner (1938) and shown by Ford et al. (1959) to have its basis in a 45,X chromosomal aberration ... Noonan (1968) reported 19 cases of whom 17 had pulmonary stenosis and 2 had patent ductus arteriosus. Twelve were males and 7 were females. Deformity of the sternum with precocious closure of sutures was a frequent feature .. [*][P] Noonan Syndrome Birth Defects Foundation. Noonan Syndrome Booklet. This booklet, is intended for individuals with Noonan Syndrome, parents, professionals and friends. It has been produced to encourage greater awareness, and provide a brief overview of current available information ...

7. Noonan Syndrome Topics include Title and male turner syndrome Noonan Syndrom Noonan Syndrome NoonanovejSyndròm PseudoTurner Syndrome Pterigium Colli Syndrome Sindrome di http://ibis-birthdefects.org/start/noonan.htm

Tips for printing Noonan Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and Male Turner Syndrome Noonan Syndrom Noonan Syndrome Noonanovej Syndròm Pseudo-Turner Syndrome Pterigium Colli Syndrome Sindrome di Noonan Turner-Like Syndrome Turner Phenotype with Normal Karyotype Watson Syndrome (Neurofibromatosis) Special Resources Noonan Syndrome A Selection of Internet Sites [*] Outstanding [P] Professionals [S] Support Groups [Italian] [Slovakian] [Danish] [German] [Norwegian] [*][P] Noonan syndrome 1; NS1 OMIM. The disorder now known as Noonan syndrome bears similarities to the disorder described by Turner (1938) and shown by Ford et al. (1959) to have its basis in a 45,X chromosomal aberration ... Noonan (1968) reported 19 cases of whom 17 had pulmonary stenosis and 2 had patent ductus arteriosus. Twelve were males and 7 were females. Deformity of the sternum with precocious closure of sutures was a frequent feature .. [*][P] Noonan Syndrome Birth Defects Foundation. Noonan Syndrome Booklet. This booklet, is intended for individuals with Noonan Syndrome, parents, professionals and friends. It has been produced to encourage greater awareness, and provide a brief overview of current available information ...

8. AllRefer Health - Noonan Syndrome (Turner-Like Syndrome Of Males) Because these abnormalities resemble those of Turner syndrome (which only affectsfemales), Noonan syndrome used to be called male turner syndrome, this term http://health.allrefer.com/health/noonan-syndrome-info.html

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 You are here : AllRefer.com Health Noonan Syndrome Noonan Syndrome Definition Prevention Treatment Expectations or Prognosis ... 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.

9. Noonan Syndrome - Health And Medical Information: Diseases And Conditions, Medic Other names for Noonan syndrome have included the male turner syndrome, femalepseudoTurner syndrome, Turner phenotype, and (as mentioned above) the Turner http://www.medicinenet.com/Noonan_Syndrome/article.htm

MedicineNet Home > Noonan Syndrome Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Next page Noonan Syndrome What is Noonan syndrome? Why is it named Noonan syndrome? What did Noonan syndrome used to be called? (obsolete terms) What are the body features of Noonan syndrome? ... Noonan Syndrome At A Glance What is Noonan syndrome? Noonan syndrome is a multifaceted condition characterized by a series of birth defects (congenital malformations) including short stature after birth (postnatal growth retardation ), webbing of the neck (pterygium colli), caved-in chestbone (pectus excavatum), narrowing of the artery from the heart to the lungs (pulmonic stenosis) and, in boys, testes that do not descend normally into the scrotum (cryptorchidism). Why is it named Noonan syndrome? The accepted name of this disorder is Noonan syndrome. It is named after Dr. Jacqueline A. Noonan who in 1968 reported 19 cases with the condition including 17 with narrowing of the artery to the lungs (pulmonary stenosis). Twelve of Dr. Noonan's patients were male and 7 were female. Noonan was clearly not the first person to discover the condition that bears her name today. In 1883 Kobilinsky reported a young man with webbing of the neck and several other features suggestive of Noonan syndrome and in 1928 Weissenberg provided a full and unmistakable description of the disease. Noonan, in collaboration with D. A. Ehmke, rediscovered the condition and noted the association with pulmonic stenosis.

10. ► Noonan Syndrome Because these abnormalities resemble those of Turner syndrome (which only affectsfemales), Noonan syndrome used to be called male turner syndrome , this term http://www.umm.edu/ency/article/001656.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Maryland Heart Center Home Medical Reference Encyclopedia (English) Toggle English Spanish Noonan syndrome 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. Alternative Names: Turner-like syndrome of males 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 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 not used because Noonan syndrome can affect females also.

11. Diagnosis - Hair Defects Table Female pseudoturner syndrome, Noonan syndrome, male turner syndrome, 163950. Maleturner syndrome, Noonan syndrome, Female pseudo-turner syndrome, 163950. http://www.keratin.com/ab/ab006.shtml

hair defects table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving hair fiber defects as a primary symptom List of disorders involving hair fiber defects as a secondary symptom Introduction The tables below records disorders known to involve hair shaft defects. The first table lists disorders where hair defects are a primary symptom. The second table lists disorders where hair defects can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column. List of disorders involving hair fiber defects as a primary symptom Disorders with hair defects as a primary symptom Alternative names for disorder Links to OMIM web pages for disorder (where available) Allotrichia circumscripta symmetrica capillitii

12. Diagnosis - Hypertrichosis Table Female pseudoturner syndrome, Noonan syndrome, male turner syndrome, 163950. Maleturner syndrome, Noonan syndrome, Female pseudoturner syndrome, 163950. http://www.keratin.com/ab/ab007.shtml

hypertrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving excess hair growth (hypertrichosis) as a secondary symptom List of disorders involving excess hair growth (hypertrichosis) as a primary symptom Introduction The tables below records disorders known to involve hypertrichosis. The first table lists disorders where hypertrichosis is a primary symptom. The second table lists disorders where hypertrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. The clinical distinction between hypertrichosis and hirsutism is that hypertrichosis involves hair growth on any hair bearing area of skin. The excess hair growth may induced by a wide variety of environmental or genetic factors. Hirsutism is the growth of hair in a secondary sexual characteristic pattern. In women hirsutism involves unwanted excess hair limited to regions including the mustache, beard, chest and/or escutcheon areas. Hirsutism is typically induced by hormonal imbalance, especially androgen excess. This is not necessarily a complete list of disorders involving hypertrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

13. Birth Disorder Information Directory - N Nontropical Sprue See Celiac Disease/Sprue. Noonan Syndrome (Female PseudoTurnerSyndrome, male turner syndrome, Turner Phenotype with Normal Karyotype) http://www.bdid.com/defectn.htm

HOME N N-Acetylglutamate Synthetase Deficiency N-acetylglutamate synthetase deficiency HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY N5-Methylhomocysteine Transferase Deficiency See Methionine Synthase Deficiency NADH-CoQ Reductase Deficiency of (Complex I Mitochondrial Respiratory Chain, Deficiency of) COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF NADH-CoQ reductase Naegeli (Franceschetti Jadassohn) Syndrome NAEGELI SYNDROME Nager Syndrome See Acrofacial Dystenosis, Nager Type Naguib Richieri Costa Syndrome See Acro Fronto Facio Nasal Dysostosis Nail-Patella Syndrome (Fong Disease) List of Sites Najjar Syndrome See Cardiogenital Syndrome Nakajo Nishimura Syndrome (Amyotrophy Fat Tissue Anomaly) Amyotrophy fat tissue anomaly Nance Horan Syndrome (Cataract-Dental Syndrome; Cataract, X-Linked, with Hutchinsonian Teeth; Mesiodens-Cataract Syndrome) CATARACT-DENTAL SYNDROME Nance-Horan syndrome Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia) CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS Chondrodystrophy sensorineural deafness Nance Sweeny Chondrodysplasia See Nance Insley Syndrome Nanism Due to Growth Hormone Isolated Deficiency See Growth Hormone Deficiency Nanocephalic Dwarfism See Bird-Headed Dwarfism Nanophthalmia/Nanophthalmos Autosomal Recessive See Anophthalmia/Anophthalmos, Clinical

14. Noonan Syndrome - Genetics Home Reference What other names do people use for Noonan syndrome? familial Turner syndrome;Female PseudoTurner Syndrome; male turner syndrome; Noonan-Ehmke syndrome; http://ghr.nlm.nih.gov/condition=noonansyndrome

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Noonan syndrome Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog Noonan syndrome What is Noonan syndrome? Noonan syndrome is a developmental disorder characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal abnormalities. Most males with this disorder have undescended testicles (cryptorchidism). How common is Noonan syndrome? Noonan syndrome has an incidence of 1 in 1,000 to 2,500 live births. What genes are related to Noonan syndrome? Mutations in the gene cause Noonan syndrome. More than 50 percent of individuals with Noonan syndrome have changes in the PTPN11 gene. Researchers are investigating other genes that might be involved in this syndrome. The PTPN11 gene makes a protein that is important for the proper formation of tissues during development and also plays a role in cell division, cell specialization, and cell movement. Most mutations in the PTPN11 gene cause a change in this protein's sequence of amino acids (the building material of proteins). These changes are believed to cause the protein to be continuously active, rather than switching on and off. The constant activation causes the improper regulation of systems that control cell functions such as growth and division. This misregulation leads to the signs and symptoms of Noonan syndrome.

15. PharmGKB: Noonan Syndrome Alternate Names male turner syndrome; Male Turner s Syndrome; Turner Syndrome,Male; Turner s Syndrome, Male; Turners Syndrome, Male. PharmGKB Primary Data. http://www.pharmgkb.org/do/serve?objId=PA445123&objCls=Disease

16. Noonan Syndrome Sorry, your browser doesn t suppor Java. Noonan Syndrome. Synonynms. webbedneck syndrome. male turner syndrome. female pseudoTurner syndrome. http://www.manbir-online.com/diseases/noonan.htm

Sorry, your browser doesn't suppor Java. Noonan Syndrome Synonynms webbed neck syndrome male Turner syndrome female pseudo-Turner syndrome Jacqueline Noonan, paediatrician and heart specialist in 1963, published a report on a small group of patients with typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. Its after her that this syndrome has been named. Noonan syndrome is inherited as an autosomal dominant condition. This means that the Noonan gene is on a non-sex (autosomal) chromosome and is transmitted from parent with a 50% probability to child. Although one dose of the Noonan gene is enough to cause the syndrome. A gene for Noonan syndrome (NS1) has been mapped to chromosome number 12. There are several different Noonan genes. The frequency of the Noonan syndrome is estimated to be between 1:1,000 and 1:2,500 in the general population Main features of this syndrome are: Pulmonary Stenosis Short stature after birth Webbing of Neck Caved in Chest Bones In boys, Testes that do not descend into the scrotum

17. Noonan's Syndrome It is included in the group of cardiofacial syndromes. It has been calledthe male turner syndrome, but may occur in both males and females. http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/NOONANS SYNDROME

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Noonan's syndrome, (Jacqueline Anne Noonan, 20th century, American paediatrician) autosomal dominant inherited disorder with dysmorphic facies, mental retardation and cardiovascular anomalies. It is included in the group of cardiofacial syndromes. It has been called the male Turner syndrome, but may occur in both males and females. The most characteristic cardiac anomaly is dysplasia of the pulmonary valve. Other lesions include hypertrophic cardiomyopathy involving either ventricle, pulmonary arterial hypoplasia, atrial septal defect ventricular septal defect and patent ductus arteriosus Echocardiography and cardiac angiography demonstrate the dysplastic, stenotic pulmonary valve. The valve is markedly thickened and shows little mobility during systole. These techniques may also display asymmetrical thickening of the ventricular septum with obstruction of the outflow region of either or both ventricles. CBH The Encyclopaedia of Medical Imaging Volume V:2 Contacts GE Healthcare Making Waves

18. Turner Syndrome Here s the evidence X + X = FEmale; Y + X = male; X + 0 = FEmale (Turnersyndrome); Y + X + X = male (Klinefelter syndrome). What s the key feature? http://gslc.genetics.utah.edu/units/disorders/karyotype/turnersyndrome.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... What Can Our Chromosomes Tell Us? Turner Syndrome Turner Syndrome Turner Syndrome affects 60,000 girls and women in the United States. This disorder occurs in 1 in 2000 to 1 in 2500 live births, with about 800 new cases diagnosed each year. Girls with Turner Syndrome do not develop secondary sex characteristics such as breast tissue and underarm or pubic hair. Women and girls with Turner Syndrome have only one X chromosome . This is an example of monosomy See the box below to learn more about how the gender of an individual is determined. Where does the single X chromosome come from? In 75 to 80 percent of cases, the single X chromosome comes from the mother's egg because the father's sperm that fertilizes the egg is missing a sex chromosome. How do chromosomes determine the gender of an individual? It took scientists a long time to work out the puzzle of how sex chromosomes determine an individual's gender. Here's the evidence: X + X = FEMALE Y + X = MALE X + = FEMALE (Turner Syndrome) Y + X + X = MALE (Klinefelter Syndrome) What's the key feature? What chromosomes do the males have that the females don't have?

19. Noonan Syndrome by this report. Synonyms Female Pseudoturner syndrome; male turnersyndrome; turner Phenotype with Normal Chromosomes (Karyotype); http://my.webmd.com/hw/raising_a_family/nord412.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Noonan Syndrome Important It is possible that the main title of the report Noonan Syndrome 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. Synonyms Female Pseudo-Turner Syndrome Male Turner Syndrome Turner Phenotype with Normal Chromosomes (Karyotype) NS Disorder Subdivisions None General Discussion In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity). Resources Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545

20. Turner Syndrome People with turner syndrome who have mosaics of the X chromosome (ie, only Such peopleare likely to develop male secondary sexual characteristics (virilization http://www.bchealthguide.org/kbase/nord/nord112.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord112"; var hwDocTitle="Turner Syndrome"; var hwRank="1"; var hwSectionHWID="nord112"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Turner Syndrome Important It is possible that the main title of the report 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. Synonyms 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X, Monosomy X Gonadal Dysgenesis (45,X) Gonadal Dysgenesis (XO) Monosomy X Morgagni-Turner-Albright Syndrome Ovarian Dwarfism, Turner Type Ovary Aplasia, Turner Type Pterygolymphangiectasia Schereshevkii-Turner Syndrome Turner-Varny Syndrome XO Syndrome Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Noonan Syndrome General Discussion Turner Syndrome is a rare chromosomal disorder of females characterized by short stature and the lack of sexual development at puberty. Other physical features may include a webbed neck, heart defects, kidney abnormalities, and/or various other malformations. Normally, females have two X chromosomes. In some cases of Turner Syndrome, however, one X chromosome is missing from the cells (45,X); research studies suggest that approximately 40 percent of these individuals may have some Y chromosomal material in addition to the one X chromosome. In other affected females, both X chromosomes may be present, but one may have genetic defects. In still other cases, some cells may have the normal pair of X chromosomes while other cells do not (45,X/46,XX mosaicism). Although the exact cause of Turner Syndrome is not known, it is believed that the disorder may result from an error during the division (meiosis) of a parent's sex cells.

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