1. Pallister's Mosaicism Syndrome (www.whonamedit.com) Also known as Killian’s syndrome KillianPallister syndrome teschler-nicola syndromePallister's syndrome Pallister's tetrasomy syndrome Pallister-Killian http://www.whonamedit.com/synd.cfm/1868.html

Home List categories Eponyms A-Z Biographies by country ... Contact Pallister's mosaicism syndrome Also known as: Killian’s syndrome Killian-Pallister syndrome Teschler-Nicola syndrome Pallister's syndrome Pallister's tetrasomy syndrome Pallister-Killian syndrome Pallister-Teschler-Nicola and Killian syndrome Teschler-Nicola's syndrome Teschler-Nicola and Killian syndrome Teschler-Nicola and Killian-Pallister syndrome Synonyms: Chromosome 12p tetrasomy syndrome, chromosome 12 mosaic tetrasomy, mosaic tetrasomy 12p, tetrasomy 12. Associated persons: Wolfgang Killian Philip D. Pallister M. Teschler-Nicola Description: Tetrasomy of the short arm of chromosome 12. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation. Bibliography: P. D. Pallister, L. F. Meissner, B. R. Elejade, et al:

2. PALLISTER-KILLIAN MOSAIC SYNDROME A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigat Category Health Conditions and Diseases...... 1. Background. also called Killian/teschlernicola syndrome, Pallister MosaicSyndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome; http://www.icondata.com/health/pedbase/files/PALLISTE.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 4/17/97 PALLISTER-KILLIAN MOSAIC SYNDROME DEFINITION: A congenital disorder caused by chromosome 12p tetrasomy in affected cells resulting in distinct craniofacial features and neurological manifestations. EPIDEMIOLOGY: incidence: rare, over 30 cases reported age of onset: birth risk factors: sporadic M = F PATHOGENESIS: 1. Background also called Killian/Teschler-Nicola Syndrome, Pallister Mosaic Syndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome the phenotypic features are due to the presence of four copies of chromosome 12p in affected cells the presence of the isochromosome 12p gives 4 copies of chromosome 12p in the affected cells CLINICAL FEATURES: 1. Neurological Manifestations profound hypotonia at birth which persists seizures usually beginning in infancy developmental delay hypotonia with joint contractures developing between 5-10 years of age minimal speech development mental retardation (usually profound) sensorineuronal hearing loss 2. Craniofacial Features

3. Www.whonamedit.com TeschlerNicola and Killian syndrome. Teschler-Nicola and Killian-Pallistersyndrome. teschler-nicola syndrome. Teschler-Nicola's syndrome. http://www.whonamedit.com/azeponyms.cfm/T.html

Home List categories Eponyms A-Z Biographies by country ... Z Eponyms beginning with T: Taenzer's stain Taenzer's syndrome Taenzer-Unna stain Takayasu's arteritis ... Ole Daniel Enersen

4. Pallister-Killian Mosaic Syndrome - Description PATHOGENESIS Also called Killian/teschlernicola syndrome, Pallister Mosaic Syndrome,Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome the http://www.pk-syndrome.org/pks_desc_e.htm

Pallister-Killian Syndrome DESCRIPTION Pallister-Killian Syndrome can also be found with the following Synonyms: Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Pallister Mosaic Syndrome Tetrasomy 12p According to the NORD (National Organization for Rare Disorders) Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present. SYMPTOMS: Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair at birth, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward. Other features frequently found in patients with this disorder may include: streaks of skin in which there is no color (hypopigmentation), extra nipples, seizures at birth, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays).

5. Health Library - Pallister Killian Mosaic Syndrome subdivision(s) covered by this report. Synonyms. Chromosome 12, Isochromosome12p Mosaic; Killian Syndrome; Killian/teschlernicola syndrome; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

6. NORD - National Organization For Rare Disorders, Inc. Killian Syndrome; Killian/teschlernicola syndrome; Pallister Mosaic Syndrome;Pallister Mosaic Syndrome Tetrasomy 12p; Teschler-Nicola/Killian Syndrome. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister Kil

7. Definitions Of Genetic Disorders -T teschlernicola syndrome http//www.stepstn.com/nord/rdb_sum/512.htm. Teschler-Nicola-KillianSyndrome http//www.stepstn.com/nord/rdb_sum/512.htm. http://www.icomm.ca/geneinfo/def-t.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter T Click on the link next to the disorder to view its definition. T-Lymphocyte Deficiency nezelof.htm Tachyalimentation Hypoglycemia hypoglyc.htm Tachycardia arrhythm.htm Takahara syndrome acat.htm Takayasu Disease taka.htm Takayasu Arteritis taka.htm Takayasu Arteritis autoimm.htm Talipes Calcaneus clubfoot.htm Talipes Equinovarus clubfoot.htm Talipes Equinus clubfoot.htm Talipes Varus clubfoot.htm Talipes Valgus clubfoot.htm Tandem Spinal Stenosis spinsten.htm Tangier Disease tangier.htm Tapetoretinal Degeneration macdeg.htm TAR Syndrome tar.htm Tardive Dystonia dystonia.htm Tardive Muscular Dystrophy edmd.htm Tardive Dyskinesia tardive.htm Tardive Oral Dyskinesia tardive.htm Tardive Dyskinesia dystonia.htm

8. 1Up Health > Health Links Directory > Conditions And Diseases: T 3) Tangier Disease (3) TAR Syndrome (4) TaySachs Disease (5) Temporal LobectomyBehavior Syndrome (3) Tendonitis (10) teschler-nicola syndrome (3) Testicular http://www.1uphealth.com/links/conditions-and-diseases-t.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Conditions and Diseases : T Description Browse by Alphabets A B C D ... Z Categories Tabes Dorsalis Takatsuki Syndrome Tangier Disease TAR Syndrome ... Tyrosinemia Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

9. Searchalot Directory For T Disease (3); TaySachs Disease (5); Temporal Lobectomy Behavior Syndrome(3); Tendonitis (9); teschler-nicola syndrome (3); Testicular http://www.searchalot.com/Top/Health/ConditionsandDiseases/T/

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10. T Sachs Disease; @ Temporal Lobectomy Behavior Syndrome; @ Tendonitis; @teschlernicola syndrome; @ Testicular Cancer; @ Thalasemmia. @ Thoracic http://www.ad.com/Health/Conditions_and_Diseases/T/

search Top Categories: TAR Syndrome @ TMJ - TMD @ Tabes Dorsalis @ Takatsuki Syndrome ... @ Tyrosinemia AD.COM Web Directory is based on ODP - Open Directory Project data. No proprietary software was used in the development of this web site. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

11. WebMD/Lycos - Article Disease Kikuchi's Disease Kikuchi's Histiocytic Necrotizing Lymphadenitis KikuchiFujimotoDisease Killian Syndrome Killian/teschler-nicola syndrome Kinky Hair http://webmd.lycos.com/NR/internal.asp?GUID={7A56E3DB-DDB0-49AA-A9A9-56ED8749AA8

12. WebMD - Histiocytic Necrotizing Lymphadenitis nord KikuchiFujimoto Disease nord KillianSyndrome nord Killian/teschler-nicola syndrome nord Kinky Hair Disease http://my.webmd.com/content/healthwise/72/17908.htm

WebMD Today Home WebMD Newscenter Member Services WebMD University My WebMD Find a Doctor, Clinic Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Family Genetics Who We Are About WebMD Health Mall Sponsored: Lose Lbs Naturally Heart Failure? Trouble Focusing? You are in Medical Library Choose a Topic Our Content Sources Health Guide A-Z Ask A Question Clinical Trials Health Topics Symptoms Medical Tests Wellness ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... KW K K (Potassium) [medical-test-topic] back to top KA Kabuki Make-up Syndrome [nord] Kabuki Syndrome [shc] Kabuki Syndrome Network - Kabuki Syndrome [shc] Kahler Disease [nord] ... back to top KB KBG Syndrome [nord] back to top KC KC [nord] back to top KD KD [nord] back to top KE Kearns Sayre Syndrome (KSS) [nord] Kearns-Sayre Disease [nord] Kennedy Disease [nord] Kennedy Type Spinal and Bulbar Muscular Atrophy [nord] ... back to top KF KFS [nord] back to top KI KickAS.org - Ankylosing Spondylitis [shc] KID SAVE - Youth Helpline [shc] KID Syndrome [nord] Kidneeds - Kidney Disease [shc] ... back to top KL Kleine Levin Syndrome [nord] Kleine-Levin Hibernation Syndrome [nord] Klinefelter Syndrome [shc] Klinefelter Syndrome and Associates - Klinefelter Syndrome [shc] ... back to top KM KMS [nord] back to top KN Knee Problems and Injuries [symptom-topic] Knee replacement surgery [surgical-detail] Kneecap Instability [major-topic] Kneecap Tracking Disorder [major-topic] ... back to top KO Kobner's Disease [nord] KOH (potassium hydroxide) preparation [test-detail] KOH (potassium hydroxide) preparation for fungal nail infections [test-detail] KOH (potassium hydroxide) preparation for oral candidiasis (thrush) [test-detail] ... back to top KR

13. Genetic Conditions / Rare Conditions Information Site hyperoxaluria; PallisterHall syndrome; Pallister-Killian syndrome(tetrasomy 12p, teschler-nicola syndrome); Periodic paralysis; http://www.kumc.edu/gec/support/groups.html

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay Advocacy Groups, Support Groups, Information on Genetic Conditions and Birth Defects for Professionals, Educators and Individuals · National and International Organizations · Categories Genetic Counselors and Geneticists Children and Teen Sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

14. Browsing Health Conditions And Diseases T Category Takatsuki Syndrome Tangier Disease TAR Syndrome TaySachs Disease Temporal LobectomyBehavior Syndrome Tendonitis teschler-nicola syndrome Testicular Cancer http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/T/

15. Open Directory - Health: Conditions And Diseases: T Tendonitis@ (10); teschlernicola syndrome@ (3); Testicular Cancer@ (27);Thalasemmia@ (21); Thoracic Outlet Syndrome@ (6); Thromboangiitis http://www.mptdo.com/Health/Conditions_and_Diseases/T/

about dmoz add URL help the entire directory only in Conditions_and_Diseases/T Top Health Conditions and Diseases : T Description A B C ... S T U V W X ... Tyrosinemia Conditions and Diseases " search on: All the Web AltaVista Google USENET Google ... Yahoo Last update: 11:06 PT, Monday, July 8, 2002 - edit bfjrio Angebotsseiten: Reisen erotik

16. Katalog Health Conditions_and_Diseases T - Netz-Tipp. Syndrome (*); Tendonitis(*); teschler-nicola syndrome (*); Testicular Cancer (*); Thalasemmia http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/T/

17. Vindex, De Vindplaats Van Het Nederlandse Web Dorsalis@ Takatsuki Syndrome@ Tangier Disease@ TaySachs Disease@ Temporal LobectomyBehavior Syndrome@ Tendonitis@ teschler-nicola syndrome@ Testicular Cancer http://www.vindex.nl/dir/Health/Conditions_and_Diseases/T

hulp contact persoonlijke instellingen voeg uw site toe ... Opties: Samenvatting 1 url per domein Sites in nieuw venster Staat uw webpagina nog niet in Vindex? Meld deze dan nu aan! Url: Emailadres: Zoek in de webgids: Terug naar het overzicht Huidige rubriek Health Conditions and Diseases T Subrubrieken TAR Syndrome@ TMJ - TMD@ Tabes Dorsalis@ Takatsuki Syndrome@ ... Tyrosinemia@ Links In deze rubriek zijn geen links gevonden... Kies een subrubriek of een verwante rubriek. Submit a Site Open Directory Project Become an Editor Powered by IBM -server IDG.nl vang.net Vragen? Opmerkingen? Suggesties?

18. OneLook® Search Results: **nicola** teschlernicola and killian syndrome 19. teschler-nicola syndrome 20. teschlernicola and killian syndrome 21. teschler nicola syndrome 22. http://www.onelook.com/?w=**nicola**

19. DINO - Language: Englisch - Health - Conditions And Diseases - T Translate this page Behavior Syndrome Dieser Link verweist auf eine Haupt-Kategorie Tendonitis DieserLink verweist auf eine Haupt-Kategorie teschler-nicola syndrome Dieser Link http://www.dino-online.de/dino_page_ccd2ac9c38cee5ede0486f9a8643f3ae.html

Suche Profi-Suche Katalog Video ... Produkte Suchen: Web-Seiten Video Audio Bilder Produkte Schon gewusst? Hier suchen Sie in 2 Milliarden Webseiten. Live-Suche: Was suchen andere Dino-Besucher? You are here: DINO Language Englisch Health ... Conditions and Diseases T T Sprache/Language Categories Tabes Dorsalis Takatsuki Syndrome Tangier Disease TAR Syndrome Tay-Sachs Disease Temporal Lobectomy Behavior Syndrome Tendonitis Teschler-Nicola Syndrome Testicular Cancer Thalasemmia Thoracic Outlet Syndrome Thromboangiitis Obliterans Thrombocytopenia Absent Radius Syndrome Thrombosis Thyroid Disorders Tietze's Syndrome Tinea Infections Tinnitus TMJ - TMD Torsion Dystonia Torticollis Tourette Syndrome Toxic Epidermal Necrolysis Toxoplasmosis Trachoma Transient Global Amnesia Treacher Collins Syndrome Trichotillomania Tricuspid Valve Disease Tuberculosis Tuberous Sclerosis Tularemia Turner Syndrome Tyrosinemia This site is based on the Open Directory Project (ODP) Last update: 24. Sep. 2002, 05:10:57 o'clock This categorie needs an Editor. Help build the largest human-edited directory of the web: Become an Editor Services AKTUELLE Nachrichten Topthemen Wirtschaft Deutschland Sport ... Kalender DOMAIN NOCH FREI?

20. Genetic Disorder Listing #2 imperfecta Oxalosis hyperoxaluria PallisterHall syndrome Pallister-Killiansyndrome (tetrasomy 12p, teschler-nicola syndrome) Periodic paralysis PKU http://marshallteachers.sandi.net/teacher_sites/gillum/Genetics/gendisorder list

Welcome to Mrs.G's Web Site Have fun learning science with a crazy teacher! Web page Directory 8th grade curriculum 7th grade curriculum Student Info page Parent Signature pg 7th grade parent page 8th grade parent page Science Fair Thoughts to share ... E-mail Genetic Disorder Listing #2 Reference: http://www.kumc.edu/gec/support/index.html Aarskog syndrome Achromatopsia Achondroplasis (Dwarfism) Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome Alagille syndrome Alopecia areata Alstrom syndrome Alpha-1-antitrypsin deficiency Ambiguous genitalia Androgen insensitivity syndrome(s) Anorchia Angelman syndrome Anopthalmia Apert syndrome Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other)

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