81. SearchUK Home Top Health Conditions_and_Diseases Genetic_Disorders PallisterKillian mosaic syndrome. ADULT (18+), SHOPPING, FINANCE, GAMBLING, JOBS, TRAVEL, http://www.searchuk.co.uk/Top/Health/Conditions_and_Diseases/Genetic_Disorders/P

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82. - Malattie Rare E Genetiche - Siti Di Associazioni Di Malati, E Di Famiglie Di M Translate this page non medico). pallister-killian Sindrome di, pallister-killian MosaicSyndrome (Sito personale del padre di un bambino). Sindrome di http://utenti.lycos.it/fmfpc/associaz.htm

PORTALE FMF Malattie Rare Elenco M.R. ... E-mail FMFPC è in rete dal 1/4/2000 Anno IV Mappa del sito Siti di Associazioni di malati di M.R. e di famiglie di malati, Siti di Associazioni di Studio e Ricerca per le M.R. Siti personali di malati o di famiglie di malati di M.R. aggiornamento link 14/03/2003 ultimi aggiornamenti: Vedi anche Indirizzi delle Associazioni Cerca in questa pagina con i tasti Ctrl+F Questi i contatti oggi possibili tramite FMFPC: Cerca in questo sito powered by picosearch Malattia Rara Siti e Pagine di Associazioni Organizzazioni o Centri Universitari Siti e Pagine personali e non Acalasia Esofagea Acalasia Esofagea (sito personale) Acondroplasia AISAc - Associazione per l'informazione e lo Studio sull'Acondroplasia AdrenoLeucoDistrofia ADL A.I.L.U.Associazione Italiana Leucodistrofie Unite Franco Boiani (Sito di un ragazzo affetto da ADL) Agenesia del Corpo Calloso - ACC Agenesia del Corpo Calloso - ACC (Sito personale di una maestra di sostegno) Il sito di Pietro - Sito della mamma di un bimbo con ACC. Amiotrofia Muscolare Spinale Amiotrofia muscolare spinale (Sito personale con scheda informativa) Amiotrofia spinale muscolare Anemia di Fanconi Anemia di Fanconi Anemia di Fanconi AIRFA - Associazione Italiana per l'Anemia di Fanconi Anemia drepanocitica o falcemica (Drepanocitosi) Fondazione Filippo Collerone Angioedema Ereditario Associazione Italiana Angioedema Ereditario Associazione Volontaria Angioedema Ereditario Associazione CHARGE (C.H.A.R.G.E= Coloboma-Ritardo mentale-Atresia coane- malformazioni urogenitali - malformazioni orecchio int./est.)

83. Pallister-Killianin Syndrooma (PKS) Kehitysvammahuollon tietopankki. pallisterKillianin mosaiikki-oireyhtymäTetrasomia 12p. pallister-Killianin syndrooma (PKS). pallister http://www.saunalahti.fi/kup/syndroma/pks.htm

Kehitysvammahuollon tietopankki Pallister-Killianin mosaiikki-oireyhtymä Tetrasomia 12p Pallister-Killianin syndrooma (PKS) Pallister-Killianin oireyhtymä on 12-kromosomin vaurion aiheuttama syvään kehitysvammaisuuteen johtava oireisto. Siihen liittyy myös keskushermoston surkastumia, epilepsiaa, kuulohermojen vaurioita, kasvojen epämuodostumista, ihon liikapigmenttisyyttä, lyhyt nenä ja kaula, litteä takaraivo, vesipäisyys ( hydrokefalia ) ja "irokeesitukka", lyhyet sormet, kieroselkäisyys ja velttous. Harvinainen tetrasomia PKS-oireyhtymä on hyvin harvinainen. Koko maailmassa on raportoitu vain muutamia kymmeniä tapauksia. Suomessa oireyhtymää on tutkinut mm. tri Peltomäki kumppaneineen, mistä kerrotaan mm. Medline-tietokannan lääketieteellisessä artikkelikokoelmassa. Löydetty 12-kromosomin lyhyen varren vaurio on tyypiltään tetrasomia. Normaalin kromosomipariin on liittynyt ylimääräinen kromosomi, jolla on kaksi samanlaista lyhyttä vartta kuin normaalilla kromosomilla ja sentromeeri (kromosomin kahteen haaraan jakava kapea osa, jonka alueelle sukkularihma kiinnittyy solun jakautuessa). Esiintymä on yleensä epätäydellinen, mistä syystä puhutaan mosaikismista tai Pallister-Killianin mosaiikki-syndroomasta. PKS-vammaisten elinikä on tuntuvasti tavanomaista lyhyempi. Vanhimmiksi eläneiden ikä on 40 vuoden tienoilla.

84. Links: Conditions: Genetic Disorders - Alabama Council For Developmental Disabil disorders. Includes nutritional links to disorders such as Down syndrome,cerebral palsy and homocystinuria and cystic fibrosis. http://www.acdd.org/Links/conditions/Genetic_Disorders.htm

You are here: Home Links Conditions Genetic Disorders Genetic Disorders Home About Definition Planning ... Search On this page: General Testing and Counseling Support Groups Disorders General Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Gene Clinics - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. Primary Ciliary Dyskinesia - Information on a rare congenital disease.

85. Children's Health At Doernbecher - Child Health A-Z One example of a genetic syndrome caused by a duplication is called PallisterKillian syndrome , where part of the 12 chromosome is duplicated. http://www.ohsuhealth.com/dch/health/genetics/structural_abs.asp

Medical Genetics Index Overview of Birth Defects Chromosome Abnormalities Overview of Chromosome Abnormalities Types of Chromosome Abnormalities ... Turner Syndrome Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) Translocations Translocation Down Syndrome Other Arrangements: Rings and Inversions Mosaicism ... Online Resources You have selected the following Health topic: - Adolescent Medicine - Burns - Cardiovascular Disorders - Care of the Terminally Ill Child - Children Having Surgery - Common Childhood Injuries and Poisoning - Craniofacial Anomalies - Dermatology - Diabetes - Eye Care - Genetics - Growth and Development - High-Risk Newborn - High-Risk Pregnancy - Immunizations - Infectious Diseases - Mental Health - Neurological Disorders - Normal Newborn - Oncology - Orthopaedics - The Pediatrician - Pregnancy and Childbirth - Respiratory Disorders - Transplantations - Well-Care Visits Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) RELATED SERVICES What are structural chromosome abnormalities?

86. Katalog - Wirtualna Polska Poczta Czat SMS Pomoc Szukaj.wp.pl Katalog -Polskie www -wiatowe www -Wirtualna Polska -Katalog wiatowy -FTP/Pliki -Grupy dyskusyjne R E K L A M A R E K L A M A wp.pl Katalog Katalog wiatowy Health Conditions and Diseases http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Palli

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

87. Types Of Chromosome Abnormalities - Lucile Packard Children's Hospital Medical Genetics. Types of Chromosome Abnormalities There are manydifferent types of chromosome abnormalities that require clinical http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/typechrom.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics Medical Genetics Types of Chromosome Abnormalities There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview. If you cannot find the information in which you are interested, please visit the Medical Genetics Online Resources page in this Web site for an Internet/World Wide Web address that may contain additional information on that topic. Numerical Abnormalities: Overview of Trisomies and Monosomies Down Syndrome (Trisomy 21) Turner Syndrome Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) ... 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

88. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli http://orphanet.infobiogen.fr/data/patho/FR/fr-12p.html

Auteur: Docteur Nicole Morichon-Delvallez Editeur scientifique: Professeur Didier Lacombe Nom de la maladie et de ses synonymes Incidence Description clinique Mode de prise en charge ... Etiologie Nom de la maladie et de ses synonymes Syndrome de Pallister-Killian Syndrome de Pallister-Killian-Teschler-Nicola Syndrome de Teschler-Nicola-Killian Incidence Description clinique Mode de prise en charge Etiologie in vitro avec l'augmentation du nombre des divisions cellulaires. de novo Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S, Vekemans M, Munnich A. Prezygotic origin of the isochromosome 12pin Pallister-Killian syndrome. Am. J. Med. Genet. 1997 ; 69 : 166-168. Hunter AGW, Clifford B, M. Cox D. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin. Genet. 1985 ; 28 : 47-53. Mauceri, L.; Sorge, G.; Incorpora, G.; Pavone, L. Pallister-Killian syndrome: case report with pineal tumor. Am. J. Med. Genet. 95: 75-78, 2000. Paladini D, Borghese A, Arienzo M, Teodoro A, Martinelli P, Nappi C. Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile. Prenat Diagn. 2000 ; 20 : 996-8.

89. Medical Genetics - Chromosome Abnormalities MUSC Children's Hospital, Home About Us MUSC eNurse Health LibraryFind a Doctor For Physicians Job Opportunities Make a Difference http://www.musckids.com/health_library/genetics/chromhub.htm

90. Medical Genetics - Table Of Contents More Health Information Adolescent Medicine. http://www.chkd.org/Genetics/sitemap.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. Medical Genetics Table of Contents Medical Genetics Home Overview of Birth Defects Chromosome Abnormalities Overview of Chromosome Abnormalities ... CHKD Medical Genetics Find a Children's Hospital of The King's Daughters physician by clicking here , or call (757) 668-7500 or (800) 395-2453, 8 a.m. to 5 p.m., Monday through Friday. You may also e-mail us at healthline@chkd.com

91. Medical Genetics - Table Of Contents Visit CHKD.org for a virtual encyclopedia coveringchildren's health and parenting topics. http://www.chkd.org/Genetics/sitemap.asp?option=print

92. Health Information Baptist Health South Florida, Choose a hospital, Find a doctor, BaptistChildren's Hospital, http://www.baptisthealth.net/bhs/en/greystone_health_library/greystone/front/0,2

Due Date Calculator Body Mass Index Calculator Choose a hospital Find a doctor Baptist Children's Hospital Baptist Hospital of Miami Homestead Hospital Mariners Hospital South Miami Hospital Physician Directory Physician Referral Service Search Home Health Information Health Information: Medical Genetics Site Index Medical Genetics Home Overview of Birth Defects Chromosome Abnormalities Overview of Chromosome Abnormalities ... Online Resources Baptist Health Articles Adolescent Medicine Allergy, Asthma, and Immunology Bone Disorders Breast Health Burns Cardiovascular Diseases Cardiovascular Disorders Care of the Terminally Ill Child Child and Adolescent Mental Health Common Childhood Injuries and Poisonings Craniofacial Anomalies Dental and Oral Health Dermatology Diabetes Digestive Disorders Digestive and Liver Disorders Ear, Nose, and Throat Endocrinology Environmental Medicine Eye Care Genitourinary and Kidney Disorders Glossary Growth and Development Gynecological Health Hematology and Blood Disorders High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Men's Health Mental Health Disorders Nervous System Disorders Neurological Disorders Non-Traumatic Emergencies Normal Newborn Oncology Oral Health Orthopaedic Surgery Orthopaedics Otolaryngology Pathology Pediatrics Plastic Surgery Prostate Health Radiology Respiratory Disorders Safety and Injury Prevention Skin Cancer Spine, Shoulder, and Pelvis Disorders

93. Medical Genetics - Chromosome Abnormalities Chromosome Abnormalities There are many different types of chromosome abnormalitiesthat require clinical care by a physician or other healthcare professional. http://www.uuhsc.utah.edu/healthinfo/pediatric/genetics/chromhub.htm

Chromosome Abnormalities There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview. If you cannot find the information in which you are interested, please visit the Medical Genetics Online Resources page in this Web site for an Internet/World Wide Web address that may contain additional information on that topic. Overview of Chromosome Abnormalities Types of Chromosome Abnormalities Numerical Abnormalities: Overview of Trisomies and Monosomies Down Syndrome ... University of Utah Health Sciences Center For feedback regarding this site, contact us

94. Medical Genetics - Types Of Chromosome Abnormalities Types of Chromosome Abnormalities There are many different types of chromosomeabnormalities that require clinical care by a physician http://www.uuhsc.utah.edu/healthinfo/pediatric/genetics/typechrom.htm

Types of Chromosome Abnormalities There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview. If you cannot find the information in which you are interested, please visit the Medical Genetics Online Resources page in this Web site for an Internet/World Wide Web address that may contain additional information on that topic. Numerical Abnormalities: Overview of Trisomies and Monosomies Down Syndrome Turner Syndrome Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) ... University of Utah Health Sciences Center For feedback regarding this site, contact us

95. Medical Genetics - Chromosome Abnormalities Medical Genetics Chromosome Abnormalities. There are many differenttypes of chromosome abnormalities that require clinical care http://www.mmhs.com/clinical/peds/english/genetics/chromhub.htm

English - Adult English - Pediatric Spanish - Adult Spanish - Pediatric Medical Genetics Chromosome Abnormalities There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview. If you cannot find the information in which you are interested, please visit the Medical Genetics Online Resources page in this Web site for an Internet/World Wide Web address that may contain additional information on that topic. Overview of Chromosome Abnormalities Types of Chromosome Abnormalities Numerical Abnormalities: Overview of Trisomies and Monosomies Down Syndrome ... Topic Index MARTIN MEMORIAL Health Systems - Serving the Treasure Coast - About Us Our Services Health Library A-Z Physician Directory ... Contact Us

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