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
Extractions: 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.
Extractions: 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. Orsak till sjukdomen/skadan Symtom 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
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
Extractions: 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)
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
Extractions: 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
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
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
Extractions: 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
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
Extractions: 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.
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/
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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
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/
Extractions: Etiologie Incidence 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.