Resources For Genetic Counselors - Pallister-Killian Syndrome the chromosome abnormality in pallisterkillian mosaic syndrome is limited tospecific cell types · mechanism and parental origin of the isochromosome 12p http://www.genesoc.com/counseling2/article123.html
Extractions: Background There is no single unifying trait for these disorders. Some have their genetic defect well characterized. Others are still waiting for the discovery of the gene or genes which are damaged. The diagnosis requires careful clinical laboratory evaluation and may require testing for enzymes that are only available in research laboratories. Biopsy diagnosis may play an important role, not only in establishing the diagnosis, but providing fresh tissue for molecular and enzyme studies. Alagille Syndrome Williams Syndrome The Human Genome Project will soon have the complete genetic sequence of 3 billion base pairs of DNA encoding for about 100,000 genes. Already, many genes for diseases have been uncovered. As of this writing, it is estimated that 1% of all newborn infants harbor some chromosomal abnormality and 5% of individuals below the age of 25 yrs may develop a serious disease with a significant genetic component. Genetic disorders are frequently the result of an abnormal gene leading to an enzyme or protein defect. There are also disorders which are termed
SMCs Derived From The X A case of mosaic tetrasomy 12p (pallisterkillian syndrome) diagnosed Prenatal diagnosis of the pallister-killian mosaic aneuploidy syndrome by CVS. http://mti-n.mti.uni-jena.de/~huwww/MOL_ZYTO/sSMC/12-R.htm
Publications Biomédicales De Rouen : Novembre 1997 Title Collaborative study of mosaic tetrasomy 12p or pallisterkillian Abstract The difficulties in the diagnosis of pallister-killian syndrome are http://www.chu-rouen.fr/drrc/pub/pub9711.html
Bone Cancers Ewing's Sarcoma pallisterkillian mosaic syndrome with emphasis on the adult phenotype. A case of mosaic tetrasomy 12p (pallister-killian syndrome) diagnosed http://www.oncolink.com/types/article.cfm?c=1&s=2&ss=11&id=7925
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Horn, D. Articles by Korner, H. Journal of Medical Genetics, 1995, Vol 32, 68-71 D Horn, F Majewski, B Hildebrandt and H Korner
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:
Tools In Dysmorphology Common Cytogenetic Disorders. Structural pallisterkillian syndrome is the clinical phenotype of mosaic tetrasomy 12p.Obviously, non- mosaic tetrasomy 12p in non-viable, and the mosaic can mostly http://www.charite.de/ch/medgen/eumedis/embryology04/structural-aberrations.html
Extractions: Home Up Up From Embryology to Dysmorphology About Basic Concepts (Dysmorphology) Molecular Cytogenetics Common cytogenetic disorders. Autosomal trisomies Common cytogenetic disorders. Structural aberrations Introduction to Trinucleotide Repeat Diseases Embryological introduction to eye development Introduction to Ophthalmic Genetics Molecular Genetics of Cataract ... Genetic Disorders of the Limbs and Skeleton Font size: Abstract Structural chromosome aberrations include terminal or interstitial deletions, ring chromosomes, duplications, additional marker chromosomes and any combination with other or one of the aforementioned aberrations. Their incidence is similar in humans and experimental animals which is in sharp contrast to numerical chromosome aberrations, and prenatal losses seem to occur far less frequently. While terminal deletions and rings occur in sperm in about 90% of cases, additional isochromosomes or isodicentric chromosomes virtually always start with maternal meiosis II nondisjunction followed by centromeric misdivision. Interstitial microdeletions and de novo duplications occur at about equal frequency in female and male germ cells, but de novo 14;21 translocation trisomy occurs exclusively in oocytes. Most congenital malformations occurring frequently in structural chromosome aberrations are characterized by in general multifactorial inheritance. However, unusual malformations with monogenic inheritance point towards a gene locus in a deleted segment and haploinsufficiency when occurring in chromosome deletions. Examples include the genes for aniridia, cone-shaped epiphyses, multiple cartilagineous exostoses, split hand/foot, foramina parietalia, the van der Woude syndrome and others.
Extractions: HTML-version: 2.1 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 goran.anneren@akademiska.se Docent Elisabeth Blennow, Kliniskt genetiska avdelningen, Karolinska Universitetssjukhuset, Solna, 171 76 Stockholm, tel 08-517 753 80, fax 08-32 77 34. Kurser, erfarenhetsutbyte, rekreation
Syndrome DB - Table Of Contents pallister mosaic syndrome pallister syndrome 1 pallisterHall syndrome pallister-killian syndrome palmar and plantar keratosis and keratitis http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_p.html
Sindrome Pallister-killian Translate this page Buyse, ML, and Korf, BR killian syndrome, pallister mosaic syndrome, or mosaictetrassomy 12p, Na analysis, J.Clin, Dismorph., I (3)2,1983. 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.
Children's Hospital An example of mosaicism is mosaic Down syndrome. Structural AbnormalitiesDeletions (Cri du Chat) and Duplications (pallister killian) http://www.childrenscentralcal.org/content.asp?id=1839&parent=1&groupid=G0052
Font Size = 8 MUMS List Of Disorders - T Tetrasomy 12p, Mosiac (pallisterkillian) (13) ***; Tetrasomy 14 (1) Trisomy 8 Partial XYY syndrome (1) *; Trisomy 8 Ring mosaic Partial (1) http://www.netnet.net/mums/mum_t.htm
Current Opinion In Pediatrics - UserLogin when they are present in all tissues and are seen in liveborn infants onlyin the mosaic state (eg, tetrasomy 12p + or pallister-killian syndrome). http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-200508000-00010.htm
CMGS-Mosaicism Encountered In Prenatal Diagnosis/13.3.01 21 (Down syndrome) or very rarely iso(12p) (pallister killian syndrome) In either case the presence of a normal cell line may reduce any mosaic http://www.ich.ucl.ac.uk/cmgs/mosaic.htm
Extractions: 13 March 2001 MRCPath part 1 course. Mosaicism is a relatively rare finding in prenatal cytogenetics, accounting for approximately 5% of all prenatal cases but this figure drops to 1:3500 livebirths. Mosaicism is defined as the presence in an individual or tissue of two or more genetically distinct cell lines derived from a single zygote. The four main types of mosaicism encountered are; Single cell mosaicism (Level 1):- one cell with an extra chromosome or a structural chromosomal abnormality in one colony or flask. This is by far the most common form of mosaicism accounting for almost the full 3% incidence. Pseudomosaicism (Level II):- Two or more cells with the same chromosomal abnormality restricted to a single flask or colony. Pseudomosaicism accounts for roughly 0.5% of all mosaics detected by cytogenetic analysis. Confined placental mosaicism (CPM):- Tissue specific mosaicism affecting the placenta only. CPM occurs in approximately 1-2% of viable pregnancies.