81. Pallister-killian.html pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include http://www.indiana.edu/~pietsch/pallister-killian.html

Return to ShuffleBrain main menu Return to PKS menu Pallister-Killian Syndrome PKS the literature, 1993-1999 web contact: pietsch@indiana.edu A literature search at Indiana University, Bloomington, Indiana The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information NORD , The National Organization of Rare Diseases, has the following to say about PKS 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. What follows are literature citations, plus abstracts, of scientific articles on the subject. Record 1 of 29 in MEDLINE EXPRESS (R) 1999/01-1999/02 TITLE: Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.

82. Pallister-Killians Syndrom - Små Och Mindre Kända Handikappgrupper Collaborative study of mosaic tetrasomy 12p or pallisterkillian syndrome (nineteen fetuses or children). Ann Genet 1997; 40 (1) 45-54. http://www.sos.se/smkh/1999-29-086/1999-29-086.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Pallister-Killians syndrom Isokromosom 12p-syndromet Tetrasomi 12p-syndromet Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Dokumentinformation Dokumentdatum: 2003-02-03 HTML-version: 2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Praktiska tips Resurspersoner Docent Elisabeth Blennow, Kliniskt genetiska avdelningen, Karolinska sjukhuset, 171 76 Stockholm, tel 08-517 753 80, fax 08-32 77 34. Kurser, erfarenhetsutbyte, rekreation

83. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders: P Health Conditions and Diseases Genetic Disorders pallister killian mosaic syndrome News at 0752 on May 22, 2004 Random quote http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord

electricbrain Index Health Conditions and Diseases ... Genetic Disorders : Pallister Killian Mosaic Syndrome home index write privacy ... cache Quote of the Minute... Normal times may possibly be over forever. Find someone: Old Friends New Friends Lost Love New Love ... privacy

84. Early Intervention Eligibility Criteria BardetBeidi syndrome, Osteogenesis imperfecta. CHARGE syndrome, pallister-killian mosaic syndrome. Cornelia de Lange syndrome, Prader-Willi syndrome. http://www.health.ri.gov/family/ei/criteria1.htm

HEALTHri Family Health Early Intervention 3 Capitol Hill Room 302 Providence, RI 02908 fax: (401) 222-5734 Deb Garneau Email: DebG@doh.state.ri.us EI Homepage Early Intervention Basics ... Web Links Early Intervention Early Intervention Basics Early Intervention Eligibility Criteria Early Intervention serves children younger than three years of age who have a medical condition that may affect their growth and development, who have a known developmental delay, or who are at risk of developing one. This document will help you determine if a child should be referred to the Program. Children with diagnosed medical disorders known to influence development Children whose early development is influenced by diagnosed medical disorders that result in varying ranges of developmental delay. This category includes infants and toddlers whose early development is influenced by diagnosed physical and mental conditions that are known to impact development, including: Chromosomal Disorders Down syndrome Trisomies Neurocutaneous Syndromes Sturge-Weber syndrome Tuberous sclerosis Inborn Errors of Metabolism Amino acidopathies Very long chain fatty acid storage diseases Organic acidemias Mucopolysaccharidoses Glutaric aciduria type II Purine/pyridimine abnormalities (i.e. Lesch Nyhan Syndrome)

85. J Med Genet -- Abstracts: Horn Et Al. 32 (1): 68 Home page W. Graham, SM Brown, F. Shah, VS Tonk, and MK Kukolich Retinal Pigment mosaicism in pallisterkillian syndrome (mosaic Tetrasomy 12p) Arch Ophthalmol http://jmg.bmjjournals.com/cgi/content/abstract/32/1/68

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Horn, D. Korner, H. Alert me when: new articles cite this article Download to Citation Manager Journal of Medical Genetics, 1995, Vol 32, 68-71 ARTICLES Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts D Horn, F Majewski, B Hildebrandt and H Korner Institute of Medical Genetics, School of Medicine (Charite), Humboldt University, Berlin, Germany. We report on two patients with Pallister-Killian syndrome: an 18 month old male infant followed since the neonatal period and a 4 year old boy. Prenatal diagnosis by chorionic villi sampling (CVS) in the first case showed a normal karyotype without mosaicism. Chromosome analysis on peripheral lymphocytes of the newborn also showed a normal karyotype. The

86. Short Description Of Cell Lines. Tissue/organ: Fibroblast human, Caucasian, Fanconi anemia) GGB RD91 (human, Caucasian, Down syndrome, mosaic) - GGB RM91 (human, Caucasian, pallister killian syndrome) - GGB RP88 http://www.biotech.ist.unige.it/cldb/tis49.html

Version Short description of cell lines. Tissue/organ: fibroblast By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser hamster, Syrian MWIIW rat, Fisher ECACC ... By Beatrice... Receive email when this page changes Click Here Powered by Netmind

87. Health10 Web site dedicated to the pallisterkillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le http://www.robolink.co.uk/html/health/health10/more8.html

Ireland's Definitive Search Engine RoboLink Search: Help RoboLink Home Add URL Free IrishMail Tell a Friend ... Contact Global Search: Help Top health Natural World, Enniscorthy, County Wexford, Ireland ... Review It Natural World is your online resource for Irish health. You'll find articles and products on healthy living in Ireland. Date: 2004-4-18 Neuro-Developmental Therapy Ireland Rate it Review It Neuro-Developmental Therapy Ireland treats specific learning difficulties caused by Neurodevelopmental Delay NDD Date: 2004-3-20 North Staffs Asperger/Autism Association Rate it Review It Offering support and outings for children and adults with Asperger's Syndrome and ASD in North Staffordshire Date: 2004-2-14 North West Therapy Centre Rate it Review It The North West Therapy Centre is a 5 day service established by a Voluntary Committee to provide treatment, management and networking services for people with Multiple Sclerosis. These services also extend to their families and carers within a therapeutic environment .. Date: 2004-4-15 Online Pharmacy of Generic Drugs Rate it Review It Trustpharma.com is your comprehensive and safe online pharmacy for obtaining generic medications. Our online medical store supplies only top-quality generic drugs that are exact equivalent of the brand name drugs

88. Andy Faase pallisterkillian syndrome. March 9, 1998. Using the Internet, I found out that tetrasomy 12p is also known as the pallister-killian syndrome. http://home.planet.nl/~faase009/Andy.html

Andy Faase May 4, 2003 Andy was born on October 7, 1997, around 19 minutes past 4 o'clock in the afternoon in Enschede , the Netherlands, as the son of Frans and Li-Xia family tree ). He has the Dutch nationality. His mother had very painful contractions, much more painful than with the birth of Annabel , but once she could start pushing, everything went rather smooth. He was 52 cm long and weighted about 3150 grams. Andy was examined rather careful, because during the first ultrasound, an abnormal thick Nuchal Fold was found, raising the suspicion that he might have Down's syndrome. During the second ultrasound , about six weeks later, none of the typical abnormalities for Down's syndrome were found. The examination at birth confirmed that he did not have Down's syndrome, but some strange features were noticed, namely: Thick neck. Slightly low muscle tone. Short fifth finger on both hands, with the top part turned inside. Rather large ears, where his right ear is slightly malformed, almost looking like turned inside-out. Second toe on both foot placed slightly higher.

89. Rare Disorders - Information / Diagnosis / Treatment / Prevention Subtopics Rare Disorders Agnosia, Rare Disorders Aicardi syndrome. Rare Disorders Alstrom syndrome, Rare Disorders Barth syndrome. http://www.healthcyclopedia.com/rare-disorders.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... Contact Us Rare Disorders Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Subtopics Related Topics Message Boards Health News ... Web Directory: Subtopics: Rare Disorders > Agnosia Rare Disorders > Aicardi Syndrome Rare Disorders > Alstrom Syndrome Rare Disorders > Barth Syndrome Rare Disorders > Cerebrocostomandibular Syndrome Rare Disorders > Cleidocranial Dysplasia Rare Disorders > Cystinosis Rare Disorders > Degos Rare Disorders > Erythromelalgia Rare Disorders > Jacobsen Syndrome Rare Disorders > Melorheostosis Rare Disorders > Moyamoya Rare Disorders > Ollier Disease Rare Disorders > Pemphigoid Rare Disorders > Pemphigus Rare Disorders > Phenylketonuria Rare Disorders > Pierre Robin Syndrome Rare Disorders > Progeria Rare Disorders > Rubinstein-Taybi Syndrome Rare Disorders > Tyrosinemia Rare Disorders > VATER Syndrome Rare Disorders > Wegener's Granulomatosis Related Topics: Aarskog Syndrome Aase Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome ... Zollinger-Ellison Syndrome Message Boards and Online Support Groups: iVillage.com - The Women's Network

90. TRAVEL.com ® ... Health:Conditions And Diseases:Genetic Disorders Results 1 11 of at least 11 Blepharophimosis Ptosis Epicanthus Inversus syndrome - freespace.virgin.net/andy.bowles/ The BPEI (BPES) Family Network http://www.travel.com/Health/Conditions_and_Diseases/Genetic_Disorders/

Welcome to... Travel.com: The company that created travel on the Internet [1992]. Flights Hotels Condos Cars ... Web Directories Search Directory Languages: Deutsch Español Français Italiano ... More... (~70 Languages) Our International Sites .au English AUD .ca English CAD .de Deutsch EUR .fr Français EUR .it Italiano EUR .mx Español USD .nl Nederland EUR .nz English NZD .sg English USD .uk English GBP .us English USD Top Health Conditions and Diseases Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome Results 1 - 11 of at least 11 Blepharophimosis Ptosis Epicanthus Inversus Syndrome freespace.virgin.net/andy.bowles/ The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder. Dr. Greene's HouseCalls drgreene.com/html/21614.html A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Gene Clinics geneclinics.org/ Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Genetic Disorders: The Links to Diet ctds.info/genetic_disorders.html

91. Wuup.de - /Health/Conditions_and_Diseases/Genetic_Disorders Links. » Blepharophimosis Ptosis Epicanthus Inversus syndrome The BPEI (BPES) Family Network encourages people to get in touch with each other, share http://wuup.de/index.php/Health/Conditions_and_Diseases/Genetic_Disorders

92. I-une.com: Conditions And Diseases > Genetic Disorders Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. www.ctds.info/genetic_disorders.html. http://dir.i-une.com/Health/Conditions_and_Diseases/Genetic_Disorders/

Simultaneous search in the best search engines Genetic Disorders Health Conditions and Diseases Genetic Disorders Go to Web Directory Home Categories Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Acoustic Neuroma ... Zellweger Syndrome Related Category: Sponsored Links Site Listings Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. www.geneclinics.org Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. www.drgreene.com/html/21614.html The UDGD Spot Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis. www.camp-a-roo.com/UDGD/ Primary Ciliary Dyskinesia Information on a rare congenital disease. www.p-c-d.org/en/ Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. www.kumc.edu/gec/support/

93. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli 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.

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