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         Teschler-nicola Syndrome:     more detail

21. Pallister Killian Mosaic Syndrome - Trustworthy, Physician
subdivision(s) covered by this report. Synonyms Chromosome 12, Isochromosome12p Mosaic; Killian Syndrome; Killian/teschlernicola syndrome;
http://content.health.msn.com/hw/raising_a_family/nord512.asp

22. Index - Trustworthy, Physician-Reviewed Information From WebMD
Disease Kikuchi s Disease Kikuchi s Histiocytic Necrotizing LymphadenitisKikuchiFujimoto Disease Killian Syndrome Killian/teschler-nicola syndrome Kinky
http://content.health.msn.com/hw/index/index-topics-K.asp

23. Definitions Of Genetic Disorders-K
Killian/teschlernicola syndrome pallkill.htm Kiloh-Nevin syndrome IIIparsturn.htm Kinky Hair Disease menkes.htm Kinsbourne Syndrome opsomyo.htm
http://www.icomm.ca/geneinfo/def-k.htm

24. Elsevier.com - Smith S Recognizable Patterns Of Human Malformation
SmithLemli-Opitz Syndrome Kabuki Syndrome Williams Syndrome Noonan Cohen Syndrome Killian/teschler-nicola syndrome 1p36 Deletion Syndrome Fryns
http://www.elsevier.com/wps/product/cws_home/705571
Home Site map Regional Sites Advanced Product Search ... Smith's Recognizable Patterns of Human Malformation Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION
To order this title, and for more information, go to http://www.elsevierhealth.com/title.cfm?ISBN=0721606156
Sixth Edition
By
Kenneth Jones
, MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, CA
Description
The completely revised and updated New Edition of this definitive text?now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality?including occasional associated abnormalities?natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.

25. Genetic Conditions / Rare Conditions Information Site
Osteogenesis imperfecta Oxalosis hyperoxaluria PallisterHall syndrome Pallister-Killian syndrome (tetrasomy 12p, teschler-nicola syndrome)
http://www.kumc.edu/gec/support/
Genetic and Rare Conditions Site
Medical Genetics, University of Kansas Medical Center

Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z
Revised September 2, 2005

26. Smith’s Recognizable Patterns Of Human Malformation, 6th Edition
Syndrome PraderWilli Syndrome Cohen Syndrome Killian/teschler-nicola syndrome1p36 Deletion Syndrome Fryns Syndrome Zellweger Syndrome Freeman-Sheldon
http://www.intl.elsevierhealth.com/catalogue/titleprint.cfm?ISBN=0721606156

27. Pediatric Database
1. Background. also called Killian/teschlernicola syndrome, Pallister Mosaic Syndrome,Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome;
http://pksonline1.tripod.com/aboutpks.htm
Home About PKS Our Mission Brochure ... In the News This information was gleaned from PEDBASE. Their link is below.
  • 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

    28. Www.whonamedit.com
    TeschlerNicola and Killian syndrome. Teschler-Nicola and Killian-Pallister syndrome.teschler-nicola syndrome. Teschler-Nicola s syndrome.
    http://213.236.152.40/www-whonamedit-com/azeponyms.cfm/T.html

    Home

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    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.
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    B C D ... Z Eponyms beginning with T: Taenzer's stain Taenzer's syndrome Taenzer-Unna stain Takayasu's arteritis ... Ole Daniel Enersen

    29. SMCs Derived From The X
    Chromosomal mosaicism in the Killian/teschlernicola syndrome. Identical natureof the Pallister syndrome, the Teschler-Nicola/Killian syndrome and
    http://mti-n.mti.uni-jena.de/~huwww/MOL_ZYTO/sSMC/12-R.htm
    sSMC derived from chromosome 12 References: back to top of this section BACK
    TO HOME
    Liehr et al., Unpublished data
  • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T.
    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
    Hum Genet. 2003 Dec;114(1):51-67.
    Von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G, Kotzot D, Liehr T.

    J Med Genet. 2002 Jul;39(7):519-521
    Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schoning M, Enders H, Eggermann T.

    Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.
    Eur J Hum Genet. 2001 Aug;9(8):572-576.
    Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F.
    Centromere-specific multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.
  • 30. All Topics
    Top. Killian Syndrome. Killian/teschlernicola syndrome. Kineret Medication. KinkyHair Disease. Kinsbourne Syndrome. Kionex Medication. KL. Klaron Medication
    http://hw.healthdialog.com/kbase/list/all/k.htm
    var hwPrint=0; All Topics Click a letter to see a list of topics beginning with that letter.
    A
    B C D ... KY K
    K [Medical Test] K+Care [Medication] K+Care ET [Medication] K-10 [Medication] K-Dur [Medication] K-Effervescent [Medication] K-Lor [Medication] K-Lyte [Medication] K-Lyte CI [Medication] K-Lyte DS [Medication] K-Norm [Medication] K-Phos M.F. [Medication] K-Phos Neutral [Medication] K-Phos No. 2 [Medication] K-Tab [Medication] K-Vescent [Medication] KA Kabuki Make-up Syndrome Kabuki Syndrome [Support Group] Kabuki Syndrome Network [Support Group] Kadian [Medication] Kahler Disease Kaletra [Medication] Kallmann Syndrome Kanner's autism Kaochlor [Medication] Top Kaon [Medication] Kaon-CI [Medication] Kaopectate Caplet [Medication] Kaposi Disease (not Kaposi Sarcoma) Kaposi's sarcoma: Treatment - Health Professional Information [Cancer.gov] Kaposi's sarcoma: Treatment - Patient Information [Cancer.gov] Karidium [Medication] Karsch-Neugebauer Syndrome Kartagener Syndrome Kartagener Triad Karyotyping [Medical Test] Kasabach-Merritt Syndrome Kasof [Medication] Kast Syndrome Kato [Medication] kava [Medication] Kawasaki Disease Kay Ciel [Medication] Kayexalate [Medication] KB KBG Syndrome KC KC KD KD KE Kearns Sayre Syndrome (KSS) Kearns-Sayre Disease Keflex [Medication] Top Keftab [Medication] Kemadrin [Medication] Kenaject-40 [Medication] Kenalog [Medication] Kenalog-10 [Medication] Kenalog-40 [Medication] Kennedy Disease Kennedy Type Spinal and Bulbar Muscular Atrophy Kennedy's Disease [Support Group] Kennedy's Disease Association, Inc.

    31. Health Topics
    KikuchiFujimoto Disease. Killian Syndrome. Killian/teschler-nicola syndrome. KinkyHair Disease. Kinsbourne Syndrome. KL. Kleine Levin Syndrome.
    http://hw.healthdialog.com/kbase/list/ht/k.htm
    var hwPrint=0; Health Topics Click a letter to see a list of topics beginning with that letter.
    A
    B C D ... KW KA
    Kabuki Make-up Syndrome Kahler Disease Kallmann Syndrome Kanner's autism ... Kawasaki Disease KB KBG Syndrome KC KC KD KD KE Kearns Sayre Syndrome (KSS) Kearns-Sayre Disease Kennedy Disease Kennedy Type Spinal and Bulbar Muscular Atrophy ... Ketotic Glycinemia KF KFS KI KID Syndrome Kidney Agenesis kidney failure Kidney Failure, Acute ... Kinsbourne Syndrome KL Kleine Levin Syndrome Kleine-Levin Hibernation Syndrome Klinefelter's Syndrome Klippel Trenaunay Syndrome ... Kluver Bucy Syndrome KM KMS KN Knee Problems and Injuries Knee replacement surgery Kneecap Instability Kneecap Tracking Disorder ... Top KO Kobner's Disease Kohler Disease Kohler's Disease (of the Tarsal Navicular) Kohler's Osteochondrosis of the Tarsal Navicular ... Korsakoff's Syndrome KR Krabbe's Disease Kramer Syndrome KS KSS KT KTS KTW Syndrome KU Kufs Disease Kugelberg Welander Syndrome KW KWS
    List Selected Topics
    All Topics
    Health Topics Medical Tests Medications Support Groups This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information. For more information, click here How this information was developed

    32. All Topics - Quest Diagnostics Patient Health Library
    Kallmann s Syndrome (hypogonadotrophic hypogonadism) Support Group Killian Syndrome Killian/teschlernicola syndrome Kinky Hair Disease
    http://www.questdiagnostics.com/kbase/list/all/k.htm
    All Topics Click a letter to see a list of topics beginning with that letter. A B C D ...
    K
    [Medical Test]
    KA Kabuki Make-up Syndrome Kabuki Syndrome [Support Group] Kabuki Syndrome Network - Kabuki Syndrome [Support Group] Kahler Disease Kallmann Syndrome Kallmann's Syndrome (hypogonadotrophic hypogonadism) [Support Group] Kallmanns Syndrome - Kallmann's Syndrome (hypogonadotrophic hypogonadism) [Support Group] Kaposi Disease (not Kaposi Sarcoma) Kaposi's sarcoma: Treatment - Health Professional Information [Cancer.gov] Kaposi's sarcoma: Treatment - Patient Information [Cancer.gov] Karsch-Neugebauer Syndrome ... Karyotyping [Medical Test] Kasabach-Merritt Syndrome Kast Syndrome Kava Kawasaki Disease ... Kawasaki Families' Network - Kabuki Syndrome [Support Group]
    KB KBG Syndrome
    KC KC
    KD KD
    KE Kearns Sayre Syndrome Kearns-Sayre Disease Kegel Exercises Top Kennedy Disease Kennedy Type Spinal and Bulbar Muscular Atrophy Kennedy's Disease [Support Group] Kennedy's Disease Association, Inc. - Kennedy's Disease [Support Group] Kennedy-Stefanis Disease Kenny Caffey Syndrome Kenny Disease Kenny Syndrome ... Kent Waldrup National Paralysis Foundation - Spinal Cord Injury Helpline [Support Group] Kera. Palmoplant. Con., Pes Planus, Ony., Periodon., Arach., Acroosteolysis

    33. All Showcase - Health Disease And Health Conditions
    TAR Syndrome (4). TaySachs Disease (4). Temporal Lobectomy Behavior Syndrome (3).Tendonitis (13). teschler-nicola syndrome (3). Testicular Cancer (22)
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    34. Gigablast Search Results
    Lobectomy Behavior Syndrome@ (3); Tendonitis@ (10); teschlernicola syndrome@ (2) Thrombocytopenia Absent Radius Syndrome@ (3); Thrombosis@ (36)
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    35. USearch.co.uk - Search The Web For Tabes
    Syndrome@ Talipes@ Tangier Disease@ Tapeworms@ TaySachs Disease@ Temporal LobectomyBehavior Syndrome@ Tendonitis@ teschler-nicola syndrome@ Testicular Cancer
    http://www.usearch.co.uk/index.php?qry=tabes

    36. All Topics
    KikuchiFujimoto Disease, Killian Syndrome, Killian/teschler-nicola syndrome, KinkyHair Disease, Kinsbourne Syndrome, KL, Kleine Levin Syndrome,
    http://bchealthguide.org/kbase/list/all/k.htm
    All Topics Click a letter to see a list of topics beginning with that letter. A B C D ...
    K
    [Medical Test]
    KA Kabuki Make-up Syndrome Kabuki Syndrome [Support Group] Kabuki Syndrome Network - Kabuki Syndrome [Support Group] Kahler Disease Kallmann Syndrome Kallmann's Syndrome (hypogonadotrophic hypogonadism) [Support Group] Kallmanns Syndrome - Kallmann's Syndrome (hypogonadotrophic hypogonadism) [Support Group] Kaposi Disease (not Kaposi Sarcoma) Kaposi's sarcoma: Treatment - Health Professional Information [Cancer.gov] Kaposi's sarcoma: Treatment - Patient Information [Cancer.gov] Karsch-Neugebauer Syndrome ... Karyotyping [Medical Test] Kasabach-Merritt Syndrome Kast Syndrome Kava Kawasaki Disease ... Kawasaki Families' Network - Kabuki Syndrome [Support Group]
    KB KBG Syndrome
    KC KC
    KD KD
    KE Kearns Sayre Syndrome Kearns-Sayre Disease Kegel Exercises Top Kennedy Disease Kennedy Type Spinal and Bulbar Muscular Atrophy Kennedy's Disease [Support Group] Kennedy's Disease Association, Inc. - Kennedy's Disease [Support Group] Kennedy-Stefanis Disease Kenny Caffey Syndrome Kenny Disease Kenny Syndrome ... Kent Waldrup National Paralysis Foundation - Spinal Cord Injury Helpline [Support Group] Kera. Palmoplant. Con., Pes Planus, Ony., Periodon., Arach., Acroosteolysis

    37. EMedicine - Hearing Impairment : Article By Michael Lotke, MD
    Noonan syndrome (Sp, SNHL, +); Killian/teschlernicola syndrome (Sp, SNHL, +);Cockayne syndrome, type I (AR, SNHL, +); Gustavson syndrome (XLR, SNHL, +)
    http://www.emedicine.com/ped/topic931.htm
    (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Otolaryngology
    Hearing Impairment
    Last Updated: August 19, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: deafness, hard-of-hearing, hearing loss, conductive hearing loss, CHL, sensorineural hearing loss, SNHL, mixed hearing loss, American Sign Language, English Sign Language, lip-reading, lipreading AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
    Author: Michael Lotke, MD , Pediatric Residency Program Director, Mount Sinai Hospital; Assistant Professor, Department of Pediatrics, Rosalind Franklin University of Medicine and Science Michael Lotke, MD, is a member of the following medical societies: American Academy of Pediatrics , and American Public Health Association Editor(s): Orval Brown, MD

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    Talipes Tangier Disease Tapeworms TAR Syndrome TaySachs Disease Temporal LobectomyBehavior Syndrome Tendonitis teschler-nicola syndrome Testicular Cancer
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    39. Pallister Killian Mosaic Syndrome: Informacion Actualizada (2005)
    Chromosome 12 Isochromosome 12p Mosaic,Killian Syndrome,Killian/TeschlerNicolaSyndrome,Pallister Mosaic Syndrome, . Killian/teschler-nicola syndrome.
    http://www.marketing-rentable.com/marketing-15/pallister-killian-mosaic-syndrome
    Pallister Killian Mosaic Syndrome
    Pallister Killian Mosaic Syndrome Información actualizada (2005):
    Pallister Killian Mosaic Syndrome - Sponsor:
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    40. T Conditions And Diseases Health Interactiva
    KluverBucy Syndrome ? Tendonitis English Health Conditions and DiseasesMusculoskeletal Disorders Tendonitis ? teschler-nicola syndrome English Health
    http://www.interactiva.org/Dir/I/English/Health/Conditions_and_Diseases/T/
    www.interactiva.org English Deutsch Espa±ol ... Nederlands Web www.interactiva.org English Health Conditions and Diseases T T : Health Conditions and Diseases T: Tabes Dorsalis: English Health Conditions and Diseases Neurological Disorders Spinal Cord Tabes Dorsalis
    Takatsuki Syndrome: English Health Conditions and Diseases Neurological Disorders Peripheral Nervous System POEMS Syndrome
    Talipes: English Health Conditions and Diseases Musculoskeletal Disorders Congenital Anomalies Clubfoot
    Tangier Disease: English Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Tangier
    Tapeworms: English Health Conditions and Diseases Infectious Diseases Parasitic Tapeworms
    TAR Syndrome: English Health Conditions and Diseases Genetic Disorders Thrombocytopenia Absent Radius Syndrome
    Tay-Sachs Disease: English Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Tay-Sachs
    Temporal Lobectomy Behavior Syndrome: English Health Conditions and Diseases Neurological Disorders Dementia Kluver-Bucy Syndrome
    Tendonitis: English Health Conditions and Diseases Musculoskeletal Disorders Tendonitis
    Teschler-Nicola Syndrome: English Health Conditions and Diseases Genetic Disorders Pallister Killian Mosaic Syndrome
    Testicular Cancer: English Health Conditions and Diseases Cancer Genitourinary Testicular Tetanus: English Health Conditions and Diseases Infectious Diseases Bacterial Clostridial Tetanus Thalasemmia: English Health Conditions and Diseases Blood Disorders Anemia Thalassemia Thoracic Outlet Syndrome:

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