Pallister-Killian Mosaic Syndrome Web site dedicated to the PallisterKillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Pallister-Killian Mosaic Syndrome - Phil's Story Web site dedicated to the PallisterKillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Pallister Killian Mosaic Syndrome Pallister Killian Mosaic Syndrome is a rare chromosomal disorder caused by thepresence of four copies http://my.webmd.com/hw/raising_a_family/nord512.asp
Extractions: Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. 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.
NORD Pallister Killian Mosaic Syndrome pallister killian mosaic syndrome. To purchase fulltext report ($7.50) View Cart/Checkout http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Index Pallister Hall Syndrome pallister killian mosaic syndrome Pallister MosaicSyndrome Pallister Mosaic Syndrome Tetrasomy 12p Pallister Syndrome http://my.webmd.com/hw/index/index-topics-P.asp
Pallister-Killian Syndrome pallister killian mosaic syndrome, National Organization for Rare Disorders. Pallister Killian infomration http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Pallister Killian Mosaic Syndrome PallisterKillian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Pallister Killian Mosaic Syndrome - Trustworthy Pallister Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: Text Size A A A Front Page ... Genetic Disorders : Pallister Killian Mosaic Syndrome UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005)
Extractions: Text Size A A A Front Page ... Conditions and Diseases : Genetic Disorders Animal Model Of Parkinson's Disease Reveals Striking Sensitivity To Common Environmental Toxins (September 9, 2005) full story Prions Rapidly 'Remodel' Good Protein Into Bad, Brown Study Shows (September 8, 2005) full story Detecting Brain Infections Without Surgery (September 7, 2005) full story Breast Cancer Gene Increases Risk Of Several Cancers In Men (September 6, 2005) Journal of Medical Genetics . The mutation in the BRAC2 gene may also increase the risk of bone and throat cancers, the data suggest. full story Study Reveals Genomics Of Inflammation From Severe Injury (September 6, 2005) full story Marijuana-derived Drug Suppresses Bladder Overactivity And Irritation In Animal Models (September 6, 2005)
Pallister-Killian Syndrome PallisterKillian Syndrome resources, links to national and international genetic conditions or birth defects; pallister killian mosaic syndrome, http://www.kumc.edu/gec/support/palliste.html
Conditions And Diseases Genetic Disorders Pallister Killian Mosaic Conditions and Diseases Genetic Disorders pallister killian mosaic syndrome page is for info only. On Web Resources Directory topics include Arts http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: It is possible that the main title of the report Pallister Killian Mosaic Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. 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. The Arc (a national organization on mental retardation)
Extractions: Rare Disorders - this is a bi-monthly newsletter specifically aimed at parent support groups, professional workers and anybody interested in policy issues concerning rare disorders. The links above also give access to an archive of previous newsletters. Individuals and families are devastated when they are told that they, or a child in the family, has any disorder but when it is a very rare condition they face added problems such as difficulties of diagnosis, lack of clear information and variation of advice and treatment around the country. In addition, many people have grown up to adulthood living with such a rare disorder that they have never met another person with the same condition. David has a very rare disorder called Pallister Killian Mosaic syndrome. It is thought that only 30 people world wide have been identified as having this disorder. Although doctors realised by the age of 6 weeks that David was not developing in the normal way it was 2 years later - 2 years of hospital visits and tests - before a name was given to David's disorder. David has learning, sight and hearing difficulties caused by Pallister Killian Mosaic syndrome. Many families like David's experience the isolation of not knowing anyone going through the same experience as theirs. Contact a Family was able to help David and his family by putting them in touch with a similar family. David is now a teenager with the build of a teenager but the learning age of a six year old. Knowing that there are other families who understand the problems they face is a real help. Many disorders are individually rare but the total burden for such families is enormous.
