41. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Conditions and Diseases Genetic Disorders pallister killian MosaicSyndrome . Uncover resources and links to Web sites related http://www.1uphealth.com/links/genetic-disorders-pallister-killian-mosaic-syndro

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Pallister Killian Mosaic Syndrome Description See Related Categories Health: Conditions and Diseases: Rare Disorders Sites National Library of Medicine The synonyms of Killian syndrome, a summary and a list of major features. NORD - Pallister Killian Mosaic Syndrome Offers the synonyms, a general discussion and further resources. Pediatric Database A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

42. Pallister's Mosaicism Syndrome (www.whonamedit.com) chromosome 12. pallisterkillian mosaic syndrome is a rare chromosomaldisorder that occurs for no apparent reason. Major symptoms http://www.whonamedit.com/synd.cfm/1868.html

Home List categories Eponyms A-Z Biographies by country ... Contact Pallister's mosaicism syndrome Also known as: Killian’s syndrome Killian-Pallister syndrome Teschler-Nicola syndrome Pallister's syndrome Pallister's tetrasomy syndrome Pallister-Killian syndrome Pallister-Teschler-Nicola and Killian syndrome Teschler-Nicola's syndrome Teschler-Nicola and Killian syndrome Teschler-Nicola and Killian-Pallister syndrome Synonyms: Chromosome 12p tetrasomy syndrome, chromosome 12 mosaic tetrasomy, mosaic tetrasomy 12p, tetrasomy 12. Associated persons: Wolfgang Killian Philip D. Pallister M. Teschler-Nicola Description: Tetrasomy of the short arm of chromosome 12. 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. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation. Bibliography: P. D. Pallister, L. F. Meissner, B. R. Elejade, et al:

43. Sindrome Pallister-killian Translate this page Buyse, ML, and Korf, BR killian syndrome, pallister mosaic syndrome, ormosaic tetrassomy 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.

44. Chromosome 12p Tetrasomy Syndrome pallister mosaic aneuploidy. pallister mosaic syndrome. pallisterkillian syndrome.Teschler-Nicola and killian syndrome. 12p mosaic tetrasomy. 12p tetrasomy. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome166.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome chromosome 12p tetrasomy syndrome Synonyms Killian syndrome Pallister mosaic aneuploidy Pallister mosaic syndrome Pallister-Killian syndrome Teschler-Nicola and Killian syndrome 12p mosaic tetrasomy 12p tetrasomy isochromosome 12p syndrome mosaic tetrasomy 12p tetrasomy 12p Summary Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation. Major Features Head and neck: High forehead and micrognathia. Ears: Malformed. Eyes: Strabismus, blepharoptosis, hypertelorism, and sparse eyebrows and eyelashes. Nose: Short nose with flat bridge, anteverted nostrils, epicanthal folds, and long philtrum. Mouth and oral structures: Downturned mouth, cupid-bow thin upper lip, protruding lower lip, macrostomia, and macroglossia. Dentition is usually delayed. Neck: Short neck. Short and webbed neck.

45. Syndrome DB - Table Of Contents digitaloral syndrome pallister mosaic aneuploidy pallister mosaic syndrome pallistersyndrome 1 pallister-Hall syndrome pallister-killian syndrome palmar and 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

46. Pallister-killian2001.html NORD, The National Organization of Rare Diseases, has the following to say aboutPKS pallisterkillian mosaic syndrome is a rare chromosomal disorder that http://www.indiana.edu/~pietsch/pallister-killian2001.html

Return to ShuffleBrain main menu Return to PKS menu Pallister-Killian Syndrome PKS the literature, 2000-2001 (October) 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. Record 1 of 7 in MEDLINE(R) on CD 2001/07-2001/09 TITLE: Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker. AUTHOR: Dufke,-A; Walczak,-C; Liehr,-T; Starke,-H; Trifonov,-V; Rubtsov,-N; Schoning,-M; Enders,-H; Eggermann,-T

47. Tissue-Limited Mosaicism In Pallister-Killian Syndrome A Case In culture showed mosaic tetrasomy of isochromosome 12p both on Gbanding and fluorescencein situ hybridization, consistent with pallister-killian syndrome. http://www.nature.com/cgi-taf/DynaPage.taf?file=/jp/journal/v22/n5/abs/7210712a.

48. PALLISTER-KILLIAN SYNDROME K, Heyborne, KD, Porecco, RP (1993) Sonographic and Cytogenetic Aspects of the PrenatalDiagnosis of mosaic Tetrasomy 12p (pallisterkillian syndrome) A Case http://www.cpdx.com/cpdx/palliste.htm

Pallister-Killian Syndrome PRESENTATION Obstetrical patient presented for evaluation of fetal hydramnios, short limbs and sacral appendage at 32 weeks gestation FINDINGS Targeted ultrasound examination confirms fetal hydramnios, short limbs and sacral appendage. In addition, Dandy-Walker Malformation and diaphragmatic defect were revealed. MANAGEMENT Amniocentesis was performed. Karyotype showed 46,XY/47,XY + i(12p) identified by G-banded metaphases and FISH analysis. Tetrasomy was observed in 18 of 20 colonies. DIAGNOSIS Tetrasomy 12p is consistent with Pallister-Killian syndrome (PKS). OUTCOME Spontaneous vaginal delivery of male infant at 35 weeks 5 days. Infant was intubated. Diaphragmatic hernia was confirmed through X-ray, baby was extubated and expired shortly thereafter. DISCUSSION A review of the literature indicates that all Pallister-Killian fetuses with diaphragmatic defects die shortly after birth. Hydramnios, short limbs and diaphragmatic defects are common in PKS. Sacral appendage has been reported in association with PKS. Hydrocephalus is also reported in PKS. This case appears to be the first associated with Dandy-Walker malformation. The extra chromosome is often not found in peripheral lymphocytes and may be lost in cultured cell lines. If cordocentesis had been used to obtain tissue for cytogenetics in this case, as it often is in the third trimester, the extra chromosome confirming the diagnosis of PKS may not have been found. The clinical features of PKS resemble Fryns syndrome, an autosomal recessive condition, which may have been diagnosed in the absence of an accurate karyotype. When diaphragmatic defect in association with other anomalies is detected in late gestation, an amniotic fluid sample rather than fetal blood sample would enable exclusion or confirmation of PKS. Once a correct diagnosis is made, appropriate prognosis and recurrence risk counseling can be provided to the patient.

49. 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 syndrom Tetrasomi 12p syndrom 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

50. The Contact A Family Directory - PALLISTER-KILLIAN SYNDROME pallisterkillian syndrome (PKS) is a very rare chromosomal condition. the othercells having a normal chromosome type, the condition is described as mosaic. http://www.cafamily.org.uk/Direct/p075.html

printer friendly PALLISTER-KILLIAN SYNDROME home more about us in your area conditions information ... how you can help search this site PKS affects both males and females equally. The condition is present at birth and the oldest known individuals with PKS are in their forties. The major symptoms of PKS include a characteristic facial appearance, learning difficulties , seizures (see separate entry, epilepsy ), loss of muscle tone ( hypotonia ) and streaks of skin in which there is no colour (hypopigmentation) or darker skin colour than normal (hyperpigmentation) anywhere on the body. Individuals may show some or all of these features and, in addition, may be differently affected in the severity of their symptoms. Typically individuals with PKS have a high forehead, sparse hair on the temple region of the scalp and eyebrows, an abnormally wide space between the eyes, a fold of skin over the inner corner of the eyes and a flat nose. At birth infants with PKS are profoundly hypotonic (floppy) and this may persist into later life. Between the ages of 5 and 10 years, children may have stiffness of joints (contractures). Children are almost always developmentally delayed with learning difficulties and minimal speech. Seizures may occur during infancy. Difficulties with vision (see separate entry, visual impairment ) and hearing (see separate entry

51. Registered Disorders Chromosome Deletion Outreach, Inc. (CDO) Tetraploidy 2. partial tetrasomy 8p. mosaic Tetrasomy 8p 1. Tetrasomy9p 1. Tetrasomy 12p pallister killian syndrome 2. Tetrasomy 18p 1. http://www.chromodisorder.org/disorder3.htm

About CDO Contact Us Join CDO Donate ... Volunteer Select a Page More about Chromosome Deletion Outreach Registered Chromosome Disorders CDO Family Stories Intro to Chromosome Abnormalities Ask the Doctor Library Resources Secure Application Form CDO Angels NICU Stories Guestbook T-Shirts FAQS Inspirational Chromosome Disorders Registered with Chromosome Deletion Outreach, Inc. Section 3 Last updated February 21, 2003 CDO represents over 1800 families and professionals living in 34 countries Detailed information regarding the number of members affected with a particular disorder is now also shown below in brackets beside each listing. Please do consider joining us even if you don't see your child's disorder currently listed. Our membership is growing rapidly and if your child's disorder is listed here we are more likely to receive inquiries from other families. For a listing of our many contact persons, please click here *New Members Please contact any CDO Board member using the electronic Feedback Form for more information Deletions Inversions Trisomies / Duplications Translocations ... Other Disorders RING OF CHROMOSOME: unknown [1] ring 1 mosaic [2] mosaic ring syndrome [1] mosaic ring 2 [1] mosaic 15 p11.2, q26 [1]

52. 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

53. Site Index - Lucile Packard Children's Hospital and Duplications (pallister killian) Translocations Translocation Down syndromeOther Arrangements Rings and Inversions mosaicism mosaic Down syndrome How http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/sitemap.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics Medical Genetics Site Index Medical Genetics Home Overview of Birth Defects Chromosome Abnormalities Overview of Chromosome Abnormalities ... Return to Full List of Topics Lucile Packard Children's Hospital is located in Palo Alto, adjacent to Stanford University Hospital, approximately 20 miles north of San Jose, CA and 40 miles south of San Francisco. Lucile Packard Children's Hospital 725 Welch Road Palo Alto, California 94304

54. Untitled pallisterkillian syndrome, or mosaic tetrasomy 12p, is a relatively rare syndromethat is clinically manifested by profound mental deficiency and multiple http://www.faseb.org/genetics/ashg00/f854.htm

55. Medical Genetics - Site Index Chat) and Duplications (pallister killian). Translocations. Translocation Down syndrome.Other Arrangements Rings and Inversions. mosaicism. mosaic Down syndrome. http://www.musckids.com/health_library/genetics/sitemap.htm

56. Publications Biomédicales De Rouen : Novembre 1997 Title Collaborative study of mosaic tetrasomy 12p or pallisterkillian syndrome (nineteenfetuses or children). Source Annales de Genetique. 40(1)45-54, 1997. 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

57. Journal Clubs 3. Tetrasomy 12p (pallisterkillian syndrome) Ultrasound Indicators GestationalAge 3. mosaic Uniparental Disomy in Beckwith-Wiedemann syndrome READING LIST http://www.agt-info.org/Journalclub.html

JobLine Membership Who are we? Job descriptions ... Awards Journal Club List The Journal Club order form is now available on line to print from this web site. READING LIST 21 1. Cryptic Translocations and Telomeric Integrity. 2. Rapid Detection of Chromosome Aneuploid in Unculture Amniocytes by using Fluorescence In Situ Hybridization (FISH). 3. A Prospective Cytogenetic Study of 36 Cases of Digeorge Syndrome. READING LIST 22 1. Uniparental Disomy for Chromosome 16 in Humans. 2. Flow Cytometric and Cytogenetic Analyses in Human Spontaneous Abortions. 3. Constitutional 1p36 Deletion in a Child with Neuroblastoma. READING LIST 23 1. Characterization of Supernumerary Ringmarker Chromosome by FISH. 2. A Rare Inherited Euchromatic Haleromorphism on Chromosome One. 3. Attitudes of Women of Childbearing Age Towards Prenatal Diagnosis in Southeastern France. READING LIST 24 1. Cytogenetic and Molecular Studies in the Prader-Willi and Angelman Syndromes: An Overview. 2. Mosaic Isochromosome 8p.

58. Congenital/Metabolic transport chain abnormalities (n = 5), cortical dysplasia (n = 3), myoclonic epilepsy(n = 1), leukodystrophy (n = 2), pallisterkillian mosaic syndrome (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. Acrodermatitis Enteropathica Alpha-1-Antitrypsin Deficiency Alport Syndrome Amyloid ... 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

59. CMGS-Mosaicism Encountered In Prenatal Diagnosis/13.3.01 pallister killian syndrome) requires extensive analysis as clinically affectedliveborn children have been reported. Should care also be taken with 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.

60. Untitled syndrome kernicterus Agenesis of the Corpus Callosum Landau Kleffner SturgeWebersyndrome Leigh Disease pallister-killian mosaic syndrome Coffin-Lowry http://athena.uwindsor.ca/units/leddy/2002.nsf/HelpSubjectGuidesPsychCentralCase

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