61. 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

Modules Home FAQ Feedback Forums ... Your Account Who's Online There are currently, 7 guest(s) and member(s) that are online. You are Anonymous user. You can register for free by clicking here Languages Select Interface Language: Albanian Arabic Brazilian Catala Chinese Czech Danish Dutch English Euskara Finnish French Galego German Greek Hungarian Icelandic Indonesian Italian Macedonian Norwegian Polish Portuguese Romanian Russian Slovak Slovenian Spanish Swedish Thai Turkish Ukrainian Vietnamese Login Nickname Password Security Code: Type Security Code Don't have an account yet? You can create one . As a registered user you have some advantages like theme manager, comments configuration and post comments with your name. Old Articles Thursday, February 10 VATER Association Turner Syndrome Tuberous Sclerosis Trisomy 18 ... Older Articles Pallister-Killian Syndrome Posted on Wednesday, February 09 @ 23:28:23 CST by debi Pallister-Killian Syndrome Fact Sheet May 2004 Genetic Etiology · Tetrasomy 12p (mosaicism) Incidence and carrier frequency · Very rare disorder · Affects males and females in equal numbers · >30 cases reported in the literature Risk to various family members · Sporadic inheritance, extremely rare

62. Rare Diseases Terms - Office Of Rare Diseases Disease, pallisterkillian syndrome. Synonyms, pallister mosaic aneuploidy.pallister mosaic syndrome. Isochromosome 12p syndrome http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=8421

63. Maladies Rares, Maladies Orphelines pallisterkillian syndrome pallister-mosaic syndrome pancreatic cancer pancreaticislet cell neoplasm pancreatic islet cell tumors panic disorder http://www.fmo.easynetonline.net/anciensite/listord.html

Maladies rares maladies orphelines ATTENTION : VOUS ETES SUR L'ANCIEN SITE DE LA FEDERATION DES MALADIES ORPHELINES Vous pouvez vous diriger vers le nouveau site en cliquant - ici Retour Office of Rare Diseases Rare Diseases List A B C D ... Z A achalasia Achard-Thiers syndrome achondrogenesis achondroplasia achondroplastic dwarfism achromatopsia acid maltase deficiency acne rosacea acoustic neuroma acquired agranulocytosis acquired autoimmune hemolytic anemia acquired syphilis acrocallosal syndrome, Schinzel type acrodermatitis acrodermatitis enteropathica acrodysostosis acromegaly ACTH deficiency Actinomycetales infection acute (altitude) mountain sickness acute idiopathic polyneuritis acute intermittent porphyria acute lymphocytic leukemia acute myelocytic leukemia acute myelogenous leukemia acute necrotizing ulcerative gingivitis acute posterior multifocal placoid pigment epitheliopathy acute renal failure Adams-Oliver syndrome Addison's disease adenocarcinoid adenocarcinoma adenoid cystic carcinoma adenomelablastoma adenosine deaminase deficiency Adie syndrome adiposa dolorosa (Dercum's disease) adrenal cancer adrenal disorder adrenal hypertension adrenal insufficiency

64. Rare Pediatric Disease Database ID 466 pallisterkillian syndrome AKA Isochromosome 12p mosaic, Tetrasomy 12p,pallister-killian mosaic syndrome, Teschler-Nicola and killian syndrome http://www.madisonsfoundation.org/content/3/1/list.asp?mode=listall&letter=P

65. Congenital/Metabolic pallisterkillian mosaic syndrome (n = 1), Rett syndrome (n = 1), Landau-Kleffnersyndrome (n = 1), and mitochondrial cardiomyopathy (n = 1). http://www.thedoctorsdoctor.com/diseases/congenital_metabolic.htm

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 Acrodermatitis Enteropathica Alpha-1-Antitrypsin Deficiency Alport 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

66. 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

sSMC derived from chromosome 12 References: back to top of this section BACK TO HOME Liehr et al., Unpublished data Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, Von Eggeling F, Liehr T. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet. 2003 Dec;114(1):51-67. Von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G, Kotzot D, Liehr T. J Med Genet. 2002 Jul;39(7):519-521 Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schoning M, Enders H, Eggermann T. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker. Eur J Hum Genet. 2001 Aug;9(8):572-576. Liehr T, Nietzel A, Rocchi M, Heller A, Starke H, Claussen U, v Eggeling F. Centromere-specific multicolor-FISH (cenM-FISH) followed by analysis for uniparental disomy - a useful tool in prenatal diagnosis.

67. 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

Publications biomédicales de Rouen Medline - Novembre 1997 (N=26) Menu Publications CHU Menu Général Menu Général Menu Publications CHU ... Publications CHU novembre 1997

68. 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

69. Centre For Genetics Education:: Disorder Information And Support Chromosome 14 Trisomy mosaic Chromosome 15 Trisomy 15q Chromosome 18 Monosomy 18p pallister Hall syndrome pallister killian syndrome Parkinson Disease http://www.genetics.com.au/conditions/main.htm

A Aarskog Syndrome Achondroplasia Acoustic Neuroma Acrocallosal Syndrome Acromegaly Adams Oliver Syndrome Addison Disease Adrenoleukodystrophy Agenesis Of Corpus Callosum Aicardi Syndrome Alagille Syndrome Albinism Albright Hereditary Osteodystrophy Alexander Disease Alopecia Alpers Syndrome Alpha 1 Antitrypsin Deficiency Alpha-Thalassaemia X Linked Mental Retardation Syndrome Alpha-Thalassemia Mental Retardation Syndrome Deletion ATR 16 Alport Syndrome Alstrom Syndrome Alzheimer Disease *** Amyotrophic Lateral Sclerosis Androgen Insensitivity Syndzrome Anencephaly *** Angelman Syndrome Angioedema Ankylosing Spondylitis Apert Syndrome Aplasia Cutis Congenita Argininosuccinic Aciduria Arthrogryposis Multiplex Asperger Syndrome Ataxia Telangiectasia Autism Autoimmune Lymphoproliferative Syndrome Autoimmune Polyglandular Disease Type 1 B Bannayan Riley Ruvalcaba Syndrome Bardet Biedl Syndrome Bartter Syndrome Batten Disease Beckwith Wiedemann Syndrome Behcet Syndrome Behr Syndrome Bells Palsy Benign Essential Tremor Bipolar Disorder*** Blackfan Diamond Anemia Blepharophimosis Ptosis Epicanthus Inversus Syndrome Bloom Syndrome Borjeson Forssman Lehmann Syndrome Bowel Cancer *** Branchiootorenal Dysplasia Breast Cancer*** C Cadasil Camptomelic Dysplasia Cancer Cardiac Disorders *** Cardio Auditory Syndrome Cardiovascular Disease Carnitine Deficiency Syndromes Carpal Tunnel Syndrome Carpenter Syndrome Cartilage Hair Hypoplasia Cat Eye Syndrome Cavernous Malformations Ccc Syndrome Central Core Disease Cerebellar Agenesis Cerebral Palsy Cerebro Ocul0 Facio Skeletal Syndrome

70. Pallister-Killian Syndrome: Normal Karyotype In Prenatal Chorionic Villi, In Pos Retinal Pigment mosaicism in pallisterkillian syndrome (mosaic Tetrasomy 12p)Arch Ophthalmol, December 1, 1999; 117(12) 1648 - 1649. Full Text PDF http://jmg.bmjjournals.com/cgi/content/abstract/32/1/68

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 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.

71. Chromosome 12p Tetrasomy Syndrome Information Diseases Database aka/or pallister mosaic aneuploidy aka/or pallisterkillian syndrome aka/orTeschler-Nicola and killian syndrome aka/or Tetrasomy 12p http://www.diseasesdatabase.com/ddb32521.htm

Diseases Database Index Sponsors Contact ... Previous Page Chromosome 12p tetrasomy syndrome information Search 5 synonyms or equivalents were found. Chromosome 12p tetrasomy syndrome aka/or Pallister mosaic aneuploidy aka/or Pallister-Killian syndrome aka/or Teschler-Nicola and Killian syndrome aka/or Tetrasomy 12p may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) 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: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 14:39:57 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

72. 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

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: Tools in dysmorphology: Common cytogenetic disorders. Structural aberrations Albert Schinzel 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.

73. Pallister-Killians Syndrom - Små Och Mindre Kända Handikappgrupper pallisterkillian syndrome a mild case diagnosed by fluorescence in situ Collaborative study of mosaic tetrasomy 12p or pallister-killian syndrome http://www.sos.se/smkh/1999-29-086/1999-29-086.htm

Socialstyrelsen 106 30 Stockholm 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: 2.1 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. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik 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

74. Health Library - chromosome 12p tetrasomy syndromeSynonyms, killian syndrome. pallister mosaic aneuploidy. pallister mosaic syndrome.pallisterkillian syndrome. Teschler-Nicola and killian syndrome http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

75. 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

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z P Pagon syndrome Paine syndrome palatal-digital-oral syndrome Pallister mosaic aneuploidy ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

76. 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

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.

77. 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

78. 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

Return to MUMS Home Page MUMS: List of Disorders T Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. T-Cell Deficiency (10) TSH Deficiency (1) Tachycardia (30) * Tachycardia with Atrial Flutter (2)* Tachycardia with Fibulation (1)* Tachycardia with Flutter (1)* Tactile Defensive (42) Talbot's Syndrome (1) Tay-Sachs Disease (14) ** Tay-Sachs Disease, Late Onset (2) * Teeth, all loose (1) Temporomandibular Joint Dysfunction (TMJ) (4) Temporal Lobectomy (2) Tersons Syndrome (1) Testicles with Hernia (2) Testicles with Hydrocele (2) Testicle, Hypoplastic (2) Testicles, small (2) Testicles Undescended (86) Testicular Feminization (5) * Testotoxicosis, Familial (Male Precocious Puberty) (1) Tethered Cord Syndrome (27) Tethered Spinal Cord Injuries Tethered Spinal Cord Syndrome (39)** Tetra X (10) ** Tetrabiopterin Deficiency at GTP Cyclohydrolase Level (1) Tetrahydrobiopterin Deficiencies (1) Tetralogy of Fallot (heart defect) (73) * Tetrasomies Tetrasomy 9p (q13q21) (1) Tetrasomy 12p, Mosiac (Pallister-Killian) (13) ***

79. 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

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80. 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

Various types of mosaicism may be encountered in routine prenatal diagnosis. Define the various types of mosaicism and comment on the potential clinical significance. Peter Logan. 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.

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