41. Pallister Killian Mosaic Syndrome Conditions-and-diseases-genetic-disorders-pall pallister killian mosaic syndrome. The synonyms of Killian syndrome, a summaryand a list of major features. http://www.health-websites.info/i_conditions-and-diseases-genetic-disorders-pall

home sitemap suggest url LOCATION HOME Conditions and Diseases Genetic Disorders Pallister Killian Mosaic Syndrome Pallister Killian Mosaic Syndrome NORD: Pallister Killian Mosaic Syndrome Offers the synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister%20Killian%20Mosaic%20Syndrome National Library of Medicine The synonyms of Killian syndrome, a summary and a list of major features. Other health categories: L?wchen Mountain Cur Newfoundland Patterdale Terrier ... American Wirehair Consulting health search terms used on this site: a b c d ... z Partner Sites: Advice Websites Arts Websites Beauty Websites Cooking Websites ... www.health-websites.info , ALL Right Reserved. Site developed and maintained by PEC Designs Manchester Web Design

42. HalfthePlanet Is The Authoritative Online Source Of Reliable Tools Pain@ (54); pallister killian mosaic syndrome@ (2); PallisterHall Syndrome@ (3);Pancreatic Cancer@ (34); Pancreatitis@ (8); Panic@ (28) http://www.halftheplanet.org/cgi-bin/resources/apexec.pl?etype=odp&passurl=/Heal

43. The World Diseases A 2 Z Names By Countrylinks And Dr Impex Pallister Hall Syndrome. pallister killian mosaic syndrome. Pancreatic Cancer.Pancreatitis. Panic. Parasitic Infections. Paresthesia. Parkinson s Disease http://www.countrylinks.biz/diseases.htm

Country Links Dr Impex free on-line Services Note: search with CTRL + F A Aarskog Syndrome Aase Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome Achilles Tendonitis Achondroplasia Acoustic Neuroma Acromegaly Activated Protein C Resistance Acute Idiopathic Polyneuritis ADD and ADHD Addiction and Recovery Addison's Disease Adiposis Dolorosa Adjustment Disorders Adrenoleukodystrophy Agnosia Agoraphobia Aicardi Syndrome AIDS Alagille Syndrome Albinism Alcoholism Alexander Disease Alkaptonuria Allergies Alopecia Alpers' Disease Alpha1 Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia Altophobia Alzheimer's Amblyopia Amputee Amyloidosis Amyoplasia Congenita Amyotrophic Lateral Sclerosis Anal Fissures Anemia Anencephaly Aneurysm Angina Pectoris Anophthalmos Anorexia Anosmia Anterior Knee Pain Syndrome Antiphospholipid Syndrome Anxiety Aortic Valve Disease Apert Syndrome Aphasia Aplastic Anemia Apnea, Sleep Appendicitis Arrhythmia Arteriohepatic Dysplasia Arthritis Arthrogryposis Asbestosis Asperger's Syndrome Aspergillosis Asthma Atherosclerosis Athlete's Foot Atrial Fibrillation Attachment Disorder Attention Deficit Disorder Autism Auto Immune Disorders Aviophobia Aviatophobia B Bacillary Angiomatosis Back Disorders Bad Breath Balanitis Baldness Barth Syndrome Bassen Kornzweig Syndrome Batten Disease Beckwith-Wiedemann Syndrome Behcet's Syndrome Bell's Palsy Benign Breast Lumps Benign Prostatic Hyperplasia Berger's Disease Beriberi Beryllium Disease

44. Pallister-Killian Mosaic Syndrome Web site dedicated to the pallisterkillian syndrome, a meeting point, a collectionof link and useful information, Il sito raccoglie materiale utile per le http://www.pk-syndrome.org/

You've just entered Pallister-Killian Syndrome Home Page an orientation site The reasons for this site Useful Links A cosa serve questo sito PKS Description ... Punto di Incontro To contact us / per contattarci mailto: andrea@pk-syndrome.org Last update 09 April 2003

45. Pallister-Killian Mosaic Syndrome - Description Web site dedicated to the pallisterkillian syndrome, a meeting point, a collectionof link and useful information, Il sito raccoglie materiale utile per le http://www.pk-syndrome.org/pks_desc_e.htm

Pallister-Killian Syndrome DESCRIPTION Pallister-Killian Syndrome can also be found with the following Synonyms: Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Pallister Mosaic Syndrome Tetrasomy 12p According to the NORD (National Organization for Rare Disorders) 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. SYMPTOMS: Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair at birth, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward. Other features frequently found in patients with this disorder may include: streaks of skin in which there is no color (hypopigmentation), extra nipples, seizures at birth, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays).

46. Pallister's Mosaicism Syndrome (www.whonamedit.com) pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs forno apparent reason. Major symptoms may include a coarse face with a high http://www.whonamedit.com/synd.cfm/1868.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related 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 David Pallister Maria 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.

47. JHC -- Sign In Page Key Words pallisterkillian syndrome • mosaic tetrasomy 12p pallister-killiansyndrome (PKS), or mosaic tetrasomy 12p, is a rare, sporadic syndrome. http://www.jhc.org/cgi/content/full/53/3/361

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Journal of Histochemistry and Cytochemistry Online. Full Text Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency during... Polityko et al. J. Histochem. Cytochem.. This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Polityko, A. D. Articles by Naumchik, I. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 7 days for US$5.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

48. Pallister-Killian Syndrome: Rapid Decrease Of Isochromosome 12p Frequency During (J Histochem Cytochem 53361–364, 2005). Key Words pallisterkillian syndrome •mosaic tetrasomy 12p • supernumerary • isochromosome http://www.jhc.org/cgi/content/abstract/53/3/361

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: DOI: 10.1369/jhc.4A6402.2005 This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Polityko, A. D. Articles by Naumchik, I. Journal of Histochemistry and Cytochemistry Volume 53 (3): 361-364, 2005 The Histochemical Society, Inc. Pallister-Killian Syndrome : Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics Anna D. Polityko Elena Goncharova Ludmila Shamgina Natalia Drozdovskaja Lubov Podleschuk Elena Abramchik Eugenia Jaroshevich Olga Khurs Irina Pisarik Oksana Pribushenya Natalia Rumyantseva and Irina Naumchik Institute for Hereditary Diseases, Minsk, Belarus Correspondence to: Dr. A.D. Polityko, Institute for Hereditary Diseases, Orlovskaya str. 66, Minsk 220053, Belarus. E-mail: Pallister-Killian syndrome (PKS) is characterized cytogenetically by mosaic tetrasomy of chromosome 12p. Routine prenatal diagnosis

49. TheFetus.net - Pallister Killian Syndrome -Fabrice Cuillier, M. Deshayes, J.F. C Individuals with pallisterkillian syndrome are often mosaic of isochromosom 12p,but in some case, the degree of mosaicism in the chorion villus sample is http://www.thefetus.net/page.php?id=1162

50. TheFetus.net - Case Of The Week #120-Luc Druart MD, Helene Dessuant MD, Luc Gour Identical nature of the pallister syndrome, the TeschlerNicola/killian syndromeand mosaic tetrasomy 21J Genet Hum. 1987 Jan;35(1)51-61. French. http://www.thefetus.net/case.php?id=1305&answer=1

51. Entrez PubMed pallisterkillian mosaic syndrome Article in Japanese Kawame H. Division ofClinical and Molecular Genetics, Shinshu University Hospital. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

52. Entrez PubMed killian syndrome , pallister mosaic syndrome, or mosaic tetrasomy 12P? ananalysis. Buyse ML, Korf BR. MeSH Terms Abnormalities, Multiple/genetics http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=6

53. IRSC - Rare Disorders, Pallister-Killian Syndrome pallisterkillian mosaic syndrome (PKS) - http//www.pk-syndrome.org A maininterface to the PKS related information on the Web and an entry point to reach http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

54. Pallister-killian.html pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs for no TITLE A case of mosaic tetrasomy 12p (pallister-killian syndrome) http://www.indiana.edu/~pietsch/pallister-killian.html

Return to ShuffleBrain main menu Return to PKS menu Pallister-Killian Syndrome PKS the literature, 1993-1999 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. 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.

55. Arch Ophthalmol -- Retinal Pigment Mosaicism In Pallister-Killian Syndrome (Mosa Retinal Pigment mosaicism in pallisterkillian syndrome (mosaic Tetrasomy 12p) pallister-killian syndrome (PKS) was first reported by pallister in 19771 http://archopht.ama-assn.org/cgi/content/extract/117/12/1648

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 117 No. 12, December 1999 Featured Link E-mail Alerts Case Reports and Small Case Series Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Graham W Kukolich MK ISI Web of Science (1) Contact me when this article is cited Retinal Pigment Mosaicism in Pallister-Killian Syndrome (Mosaic Tetrasomy 12p) Arch Ophthalmol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. Pallister-Killian syndrome (PKS) was first reported by Pallister in 1977 and later by Teschler-Nicola and Killian in 1981. This condition is caused by a mosaic tetrasomy of chromosome 12p, which is detectable in cultured fibroblastoid cells but

56. Gazi Týp Fakültesi - Gazi Medical Journal 1. Schinzel A Tetrasomy 12p (pallisterkillian syndrome). Arbez-Gindre F,Peltie J, Gouget A pallister-killian mosaic tetrasomy 12p syndrome. http://www.med.gazi.edu.tr/gmj/1998_3_142_145.html

//Dynamic-FX slide in menu v6.5 (By maXimus, maximus@nsimail.com) //Site: http://maximus.ravecore.com/ //For full source, and 100's more DHTML scripts, visit http://www.dynamicdrive.com Table of contents A FURTHER PRENATAL DIAGNOSIS OF MOSAIC TETRASOMY 12p BY IN SITU HYBRIDIZATION Gönül OÐUR, M.D., Filiz BAL*, M.D., Pierre HEIMANN**, M.D., Muhterem BAHÇE, M.D., Akgün YILDIZ***, M.D., Adnan MENEVÞE*, Ph.D., Ester VAMOS**, M.D. GATA, Departments of Medical Genetics, Ankara, Turkey Gazi University, Faculty of Medicine, Departments of Medical Biology and Genetics* and Obstetrics and Gynecology***, Ankara, Turkey Free University of Brussels, Hospital Universitaire Bragmann, Unite de Cytogenetique**, Brussels, Belgium Gazi Medical Journal 1998; 9 : 142-145 SUMMARY : A further case of mosaic tetrasomy 12p detected prenatally is reported. The 38-year-old mother in her third pregnancy was referred to our center at 15 weeks of gestation because of advanced maternal age. Amniocentesis was performed and the culture yielded a 46,XX/47,XX,+ i(12p) ? karyotype. The fetus was suspected to have Pallister-Killian Syndrome. The diagnosis was confirmed by FISH analysis. An ultrasound examination showed the fetus to have a diaphragmatic hernia. The pregnancy was terminated with the consent of the family. The fetus showed multiple congenital abnormalities including a large and coarse face, frontal bossing, high frontal hairline, hypertelorism, wide-flat nasal bridge, small, upturned nose, full cheeks, large mouth, short mandible, short neck with excess nuchal skin, and low set ears. Fetal skin fibroblast cultures confirmed the cytogenetic diagnosis of tetrasomy 12p whereas the fetal blood yielded only normal karyotype. Karyotypes of the parents were also normal. Autopsy findings of the fetus confirmed the diagnosis of congenital diaphragmatic hernia.

57. Center For Prenatal Diagnosis Tetrasomy 12p is consistent with pallisterkillian syndrome (PKS). the PrenatalDiagnosis of mosaic Tetrasomy 12p (pallister-killian syndrome) A Case http://www.cpdx.com/pallister.html

Adventures in Prenatal Diagnosis Case Studies Pallister-Killian Syndrome Trisomy 13 Achondrogenesis, Type II Spinal Muscular Atrophy, Type I 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.

58. 601803 PALLISTER-KILLIAN SYNDROME; PKS TETRASOMY 12p, mosaic ISOCHROMOSOME 12p syndrome pallisterkillian syndromeis a dysmorphic condition characterized by a tissue-limited mosaicism; http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:601803] -e

59. Karger Publishers 15 Quarrell OW, Hamill MA, Hughes HE pallisterkillian mosaic syndrome withemphasis on the adult phenotype. Am J Genet 1988;31841-844. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

60. Definitions Of Genetic Disorders -P pallisterHall syndrome pallhall.htm pallister-killian mosaic syndromepallkill.htm pallister mosaic Aneuploidy pallkill.htm pallister mosaic syndrome http://www.icomm.ca/geneinfo/def-p.htm

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