Extractions: 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)
Extractions: Tetrasomia 12p 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. 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.
Extractions: On this page: 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.
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
Extractions: - 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
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
Extractions: 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 Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian) ... Return to Full List of Topics
Extractions: Etiologie Incidence 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.
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
Extractions: 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
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
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
Extractions: 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
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
Extractions: 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
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
Extractions: 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
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
Extractions: Medical Genetics 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