Pallister-Killian Mosaic Syndrome Web site dedicated to the PallisterKillian syndrome, a meeting point, teschler-nicola, M.; Killian, W. Case report 72 mental retardation, http://www.pk-syndrome.org/references.htm
Extractions: Cormier-Daire, V.; Le Merrer, M.; Gigarel, N.; Morichon, N.; Prieur, M.; Lyonnet, S.; Vekemans, M.; Munnich, A.: Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am. J. Med. Genet. de Bruin, T. W. A.; Slater, R. M.; Defferrari, R.; Geurts van Kessel, A.; Suijkerbuijk, R. F.; Jansen, G.; de Jong, B.; Oosterhuis, J. W.: Isochromosome 12p-positive pineal germ cell tumor. Cancer Res. Hunter, A. G. W.; Clifford, B.; Cox, D. M.: The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin. Genet. Mauceri, L.; Sorge, G.; Incorpora, G.; Pavone, L.: Pallister-Killian syndrome: case report with pineal tumor. Am. J. Med. Genet. Pallister, P. D.; Meisner, L. F.; Elejalde, B. R.; Francke, U.; Herrmann, J.; Spranger, J.; Tiddy, W.; Inhorn, S. L.; Opitz, J. M.: The Pallister mosaic syndrome. Birth Defects Orig. Art. Ser. XIII(3B): 103-110, 1977. Schinzel, A.: Tetrasomy 12p (Pallister-Killian syndrome). J. Med. Genet.
Chromosome 12p Tetrasomy Syndrome Information Diseases Database teschlernicola and Killian syndrome aka/or Tetrasomy 12p. may cause or feature+ (Follow link for list.) belong(s) to the category of + (Follow link for http://www.diseasesdatabase.com/ddb32521.htm
Extractions: Tetrasomy 12p Chromosome 12p tetrasomy syndrome: Definition(s) via UMLS Code translations and terms via UMLS Chromosome 12p tetrasomy syndrome: specific web sites Send Chromosome 12p tetrasomy syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these:
Rare Diseases Terms - Office Of Rare Diseases Isochromosome 12p syndrome. teschlernicola and Killian syndrome. Tetrasomy 12p.Information about Pallister-Killian syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=8421
NAGER & MILLER SYNDROMES teschler-nicola/Killian syndrome. PELIZAEUS-MERZBACHER DISEASE. The PMD Foundation.333 Homestead Ave. Haddonfield, NJ 08033. (856) 795-1539 http://www.as.wvu.edu/~scidis/organizationN_S.html
Extractions: Foundation for Nager and Miller Syndromes (FNMS) 1827 Grove St. #2 Glenview, IL 60025-2913 (847) 724-6449 (fax) fnms@interaccess.com http://www.fnms.net -Acrofacial Dysostosis, Nager Type NEUROFIBROMATOSIS National Neurofibromatosis Foundation John Radziejewski Director of Public Education 95 Pine St., 16th Floor New York, NY 10005 (212) 747-0004 (fax) nnff@nf.org http://www.nf.org Neurofibromatosis, Inc. 9320 Annapolis Rd., Ste. 300 Lanham, MD 20706-2924 (301) 918-0009 (fax) nfinc1@aol.com http://www.nfinc.org -Von Recklinghausen Disease NEUROLOGICAL DISORDERS Association for Comprehensive Neurotherapy Latitudes PO Box 210848 Royal Palm Beach, FL 33421 (561) 798-9820 (fax) acn@latitudes.org Children's Neurobiological Solutions 1726 Franceschi Rd. Santa Barbara, CA 93103 (866) 267-5580 or info@cnsfoundation.org http://www.cnsfoundation.org The Colleen Giblin Foundation Meg Minassian, Exec, Dir. 690 Kinderkamack Rd., Ste. 104 Oradell, NJ 07649 (201) 262-6442 (fax) cgf01@aol.com http://www.colleengiblinfound.org NEUROTRANSMITTER DISEASES, PEDIATRIC Pediatric Neutransmitter Disease Association 6 Nathan Dr.
Karger Publishers 14 Lubinsky M A case report of teschlernicola/Killian syndrome. J Clin Dysmorphol1983;125-27. External Resources; 15 Quarrell OW, Hamill MA, http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
JHC -- Sign In Page PallisterKillian syndrome (PKS) is characterized cytogenetically by mosaic Killian W, teschler-nicola M (1981) Case report 72 mental retardation, http://www.jhc.org/cgi/content/full/53/3/361
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Sindrome Pallister-killian Translate this page Hall, BD teschler-nicola/Killian syndrome A sporadic case in na 11 year old male.J. Clin. Dismorph., I (3)1, 1983. Schroer, RJ, and Stevenson, http://www.nicholas.yemal.nom.br/sindrome/sindrome.htm
Extractions: Síndrome de Pallister-Killian - PKS Teschler Nicola e Killian descreveram uma paciente com 3 anos de idade com esse distúrbio, em 1981. Um segundo caso foi relatado por Schroer e Stevenson, em 1983. Subsequentemente foi reconhecido que dois adultos com um fenótipo similar e mosaicismo para um cromossomo marcados descrito por Pallister et al., em 1976, apresentavam a mesma condição. Recentemente, a tetrassomia 12p, seja em mosaico ou total, foi documentada em fibroblastos da pele de indivíduos afetados, mas não no sangue periférico. ANORMALIDADES Crescimento . Estatura, peso e circunferência cefálica normais ou aumentados ao nascimento com desaceleração do crescimento pós-natal da estatura e da circunferência cefálica, Frequentemente há o desenvolvimento de obesidade. Desempenho . Deficiência mental profunda com desenvolvimento mínimo da linguagem. Convulsões. Hipotononia com desenvolvimento de contraturas com o avançar da idade. Surdez. Craniofaciais . Cabelos esparsos na região anterior, sobretudo nas regiões temporais na infância, com sombrancelhas e cílios ralos. Fronte proeminente. A face se torna mais grosseira no decorrer do tempo. Fissuras palpebrais direcionadas para cima. Hipertelorismo ocular. Ptose palpebral. Estrabismo. Epicanto. Base nasal larga e achatada e nariz curto com narinas antevertidas. bochechas rechonchudas. Filtro longo com lábio superior fino e formato de "arco de cupido". Lábio inferior protruso. Erupção dentária retardada. Orelhas largas com lóbulos espessos protrusos. Pescoço curto.
Syndrome DB - Table Of Contents telecanthushypospadias syndrome ter Haar syndrome teschler-nicola and Killiansyndrome testicular feminization (TFM) syndrome http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_t.html
Extractions: Syndrome chromosome 12p tetrasomy syndrome Synonyms Killian syndrome Pallister mosaic aneuploidy Pallister mosaic syndrome Pallister-Killian syndrome Teschler-Nicola and Killian syndrome 12p mosaic tetrasomy 12p tetrasomy isochromosome 12p syndrome mosaic tetrasomy 12p tetrasomy 12p Summary Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation. Major Features Head and neck: High forehead and micrognathia. Ears: Malformed. Eyes: Strabismus, blepharoptosis, hypertelorism, and sparse eyebrows and eyelashes. Nose: Short nose with flat bridge, anteverted nostrils, epicanthal folds, and long philtrum. Mouth and oral structures: Downturned mouth, cupid-bow thin upper lip, protruding lower lip, macrostomia, and macroglossia. Dentition is usually delayed. Neck: Short neck. Short and webbed neck.
Extractions: Vol. 117 No. 12, December 1999 Featured Link E-mail Alerts Case Reports and Small Case Series Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Graham W Kukolich MK ISI Web of Science (1) Contact me when this article is cited Retinal Pigment Mosaicism in Pallister-Killian Syndrome (Mosaic Tetrasomy 12p) Arch Ophthalmol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. Pallister-Killian syndrome (PKS) was first reported by Pallister in 1977 and later by Teschler-Nicola and Killian in 1981. This condition is caused by a mosaic tetrasomy of chromosome 12p, which is detectable in cultured fibroblastoid cells but
All Topics Terminal Duct Carcinoma, Terrorism and Other Public Health Threats,teschlernicola/Killian syndrome, Top. Testicular Biopsy Medical Test, http://www.everettclinic.com/kbase/list/all/t.htm
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WebMD With AOL Health - Index KikuchiFujimoto Disease Nord Killian syndrome Nord Killian/Teschler-Nicolasyndrome Nord Kinky Hair Disease Nord Kinsbourne syndrome Nord http://aolsvc.health.webmd.aol.com/hw/index/index-all-K.asp
