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81. Health Conditions And Diseases Genetic Disorders Pallister Killian Mosaic Syndro
Translate this page Repertoire de sites web francophones Health Conditions and DiseasesGenetic Disorders Pallister Killian Mosaic syndrome.
http://www.intelligence-territoriale.fr/index.php3/Health/Conditions_and_Disease
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Health Conditions and Diseases Genetic Disorders Pallister Killian Mosaic Syndrome
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82. PRESCRIPTIONS : Order Prescriptions Online :
online pharmacy ?php echo $keywords; ? . Health Conditions andDiseases Genetic Disorders Pallister Killian Mosaic syndrome.
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83. EMedicine - Hearing Impairment : Article By Michael Lotke, MD
Mental (retardation) Noonan syndrome (Sp, SNHL, +); Killian/TeschlerNicolasyndrome (Sp, SNHL, +); Cockayne syndrome, type I (AR, SNHL, +);
http://www.emedicine.com/ped/topic931.htm
(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Otolaryngology
Hearing Impairment
Last Updated: January 24, 2003 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, Finch University School of Health Sciences/Chicago Medical School 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 , Director of Otolaryngology Clinic, Professor, Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas; Robert Konop, PharmD

84. T From Linkspider UK Health Directory
Match », All words -Any word -Exact text. Search », ,
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85. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
Isochromosome 12p en mosaïque. Critères de diagnostic/définition.
http://www.orpha.net/data/patho/FR/fr-12p.html
Auteur: Docteur Nicole Morichon-Delvallez
Editeur scientifique: Professeur Didier Lacombe
Nom de la maladie et de ses synonymes

Incidence

Description clinique

Mode de prise en charge
...
Etiologie
Nom de la maladie et de ses synonymes
  • Syndrome de Pallister-Killian Syndrome de Pallister-Killian-Teschler-Nicola Syndrome de Teschler-Nicola-Killian
Incidence
Description clinique
Mode de prise en charge
Etiologie
in vitro avec l'augmentation du nombre des divisions cellulaires.
de novo
Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Prezygotic origin of the isochromosome 12pin Pallister-Killian syndrome. Am. J. Med. Genet. 1997 ; 69 : 166-168. Hunter AGW, Clifford B, M. Cox D. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin. Genet. 1985 ; 28 : 47-53. Mauceri, L.; Sorge, G.; Incorpora, G.; Pavone, L. Pallister-Killian syndrome: case report with pineal tumor. Am. J. Med. Genet. 95: 75-78, 2000. Paladini D, Borghese A, Arienzo M, Teodoro A, Martinelli P, Nappi C. Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile. Prenat Diagn. 2000 ; 20 : 996-8.

86. Our Services - Geisinger Health System Dermatology
Arch Dermatol 2000;1361263. Ohman A, Pride HB, Papa CA. Killian/TeschlerNicolasyndrome. Pediatr Dermatol 2000;17151-153. Acropustulosis
http://www.geisinger.org/services/dermatology/pride_pub.shtml
Publications
Howard Pride, M.D. Francis E, Pride HB, Tyler WB. A 16-year-old girl with epidermolysis bullosa acquisita (in preparation) Edwards K, Pride HB, Tyler WB. Indeterminate Cell Histiocytosis (in preparation) Jewel M, Pride HB. Congenital erythropoietic porphyria with extensive blister after phototherapy (in preparation) Suranyi E, Pride HB, Tyler WB. Hypohidrotic ectodermal dysplasia presenting as a collodion baby. J Am Acad Dermatol. (accepted and awaiting publication) Pelle M, Pride HB, Tyler WB. Eccrine angiomatous hamartoma: A report of four cases and review of the literature. J Am Acad Dermatol 2002;47:

87. Malattie Rare E Genetiche Lettera "K"
Enfermedad deKikuchi Fujimoto Enfermedad de•{} * Killian Sindrome di•Killiansyndrome••Killian, Síndrome de Teschler Nicola Killian, Síndrome de
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KABUKI SINDROME DELLA MASCHERA
Sindrome della maschera di Kabuki Kabuki make-up, sindrome Kabuki Make-up Syndrome ... D
* Kallmann Sindrome cardiopatica di/ Kallmann Sindrome di, cardiopatia

88. New Page 1
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90. Yes Medical Information On Ailments, Personal And Family Health Matters - Yes Me
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  • 91. ÊÀÐÄÈÎËÎÃÈß ÄÅÒÑÊÎÃÎ ÂÎÇÐÀÑÒÀ
    The summary for this Russian page contains characters that cannot be correctly displayed in this language/character set.
    http://www.biometrica.tomsk.ru/ftp/medicine/article02.html
    1q32qter Trisomy
    1q23 èëè 5qter Trisomy

    Ôåíîòèï. Òîò æå, ÷òî è ïðè 1q32 qter, îäíàêî âèñöåðàëüíûå àíîìàëèè áîëåå âûðàæåíû.
    1p25 q32 Trisomy
    dup(1p3135)

    Êàðèîòèï 46,XY,dir dup(pter31::p35p31::p31qter)
    1q4 Monosomy
    1q34-43 duplicated 1q44 deleted
    2p2 Trisomy
    2q3 Trisomy

    Ôåíîòèï. Ìèêðîöåôàëèÿ, ìèêðîãíàòèÿ, ãèïåðòåëîðèçì, êîðîòêèé íîñ, òîíêèå ðóêè,"âûâåðíóòûå" íîãè, êèôîñêîëèîç, âîðîíêîîáðàçíàÿ äåôîðìàöèÿ ãðóäíîé êëåòêè, óìñòâåííàÿ îòñòàëîñòü (IQ îêîëî 50).
    3p2 Trisomy 3p (p21 leads to 3pter)
    [karyotype: 46,XX,-6,+t(3;6)(6pter leads to 6q27::3p21 leads to 3pter)]
    3q2 Trisomy 4p Trisomy 4q2 è 3 Trisomy
    Ôåíîòèï. Ìèêðîöåôàëèÿ, áðàõèöåôàëèÿ, äëèííûé íîñ, êîðîòêèå ðóêè, àíîìàëèè ãåíèòàëèé, êðèïòîðõèçì, àíîìàëèè ïî÷åê (ãèïîïëàçèÿ, ãèäðîíåôðîç), óìñòâåííàÿ îòñòàëîñòü (IQ=50).
    4p Monosomy (ñèíäðîì Âîëüôà) 4q3 Monosomy 4q33 leads to qter 4 ring 5p Trisomy 5q3 Trisomy 5q33 to qter 5p Monosomy
    Ôåíîòèï. Ìèêðîöåôàëèÿ èëè ãîëîïðîçýíöåôàëèÿ, îêðóãëîå ëèöî, ãèïåðòåëîðèçì, ìèêðîãíàòèÿ, ïàòîëîãèÿ æåëóäî÷íî-êèøå÷íîãî òðàêòà (àòðåçèÿ ïèùåâîäà) óìñòâåííàÿ îòñòàëîñòü (IQ=20).
    deletion of the short arm of chromosome 5 6p Trisomy 6p2 Trisomy 6q2 Trisomy Duplication 7p with t(7;11)

    92. Babieca.com - WWW Directory
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