101. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Naevoid Basal Cell Carcinoma syndrome Atlas of Genetics Cytogenetics in Oncology and Prenatal Screening for down syndrome D Giacherio - Univ of http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

102. Center For Genetic Disorders Of Cognition And Behavior Down The Center for genetic Disorders of Cognition and Behavior. http://gcbcenter.kennedykrieger.org/ds_re.jsp

103. EMedicine - Down Syndrome : Article By Harold Chen, MD, MS, FAAP, FACMG of Pediatrics Committee on Genetics Health supervision for children with down syndrome. Roizen NJ down syndrome and associated medical disorders. http://www.emedicine.com/ped/topic615.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Down Syndrome Last Updated: December 6, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: Down's syndrome, mongolism, trisomy 21, mental retardation AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Harold Chen, MD, MS, FAAP, FACMG , Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association American Society of Human Genetics , and Teratology Society Editor(s): James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Robert Konop, PharmD

104. DS Health Care Guidelines ,96 Persons with down syndrome often develop depressive disorders in reaction to loss death of a Molecular genetics of chromosome 21 and down syndrome. http://www.denison.edu/dsq/health96.html

[Reprinted from Down Syndrome Quarterly , Volume 1, Number 2, June, 1996] HEALTH CARE GUIDELINES FOR INDIVIDUALS WITH DOWN SYNDROME (Down Syndrome Preventive Medical Check List) Edited by William I. Cohen, M.D. for the Down Syndrome Medical Interest Group (DSMIG)* These recommendations are a thoughtful composite of the input of many experts involved in the care of people with DS. They reflect current standards and practices of health care in the United States of America. They have been designed for a wide audience: for health care professionals who are providing primary care, such as pediatricians, family physicians, internists, and geneticists, as well as specialists, nursing personnel and other allied health professionals, such as physical and occupational therapists, speech-language pathologists, and audiologists. In addition to educators and early intervention providers, these guidelines are designed for parents and other caregivers to use with the professionals who participate in the care of the individual with DS. Certain recommendations are clearly supported by current scientific knowledge. This is the case for the recommendations to detect the presence of congenital heart disease, which occurs in some 50% of infants with DS. In other cases, the recommendations represent our educated guesses. Recognizing the increased frequency of thyroid dysfunction in children with DS, we continue to recommend yearly screening for hypothyroidism. However, we are uncertain as the appropriate periodicity and nature of the screening: how often, and what constitutes an adequate screening. Consequently, members of the

105. AAFP Core Educational Guidelines - July 1999 - American Academy Of Family Physic Terminology used in medical genetics (mosaicism, incomplete penetrance, Trisomy (13, 18, and 21down syndrome); Sex chromosome anomalies (Turner s http://www.aafp.org/afp/990700ap/core.html

Advanced Search AAFP Home Page Journals Vol. 60/No. 1 (July, 1999) AAFP Core Educational Guidelines Medical Genetics RECOMMENDED CORE EDUCATIONAL GUIDELINES FOR FAMILY PRACTICE RESIDENTS This document has been endorsed by the American Academy of Family Physicians and was developed in cooperation with the American College of Medical Genetics, the Association of Professors of Human and Medical Genetics, the Association of Departments of Family Medicine, the Association of Family Practice Residency Directors and the Society of Teachers of Family Medicine. Attitudes The resident should develop attitudes that encompass the following: Recognition of the importance of the family physician, the medical geneticist and the genetics team as collaborators in the evaluation, diagnosis and management of patients referred for genetic consultation. Recognition of the need for sensitivity to the patient's and family's concerns relating to referral for genetic evaluation and diagnosis of a genetic disorder. Recognition of the importance of confidentiality, ethical and legal issues involved in medical genetics.

106. Down Syndrome:Types Of Down Syndrome Children with down syndrome (DS) account for one of every 800 births. The risk of chromosome disorders like DS, trisomy 13 and trisomy 18 increases with http://www.nas.com/downsyn/benke.html

Risk and Recurrence Risk of Down Syndrome Paul J. Benke, M.D., Ph.D. Director, Clinical Genetics Virginia Carver, Ph.D. Prenatal Diagnosis Program Roger Donahue, Ph.D Director, Cytogenetics Laboratory Genetics Division, Department of Pediatrics University of Miami School of Medicine Miami, Fla. 33101 USA October 1995 Children with Down Syndrome (DS) account for one of every 800 births. The risk of chromosome disorders like DS, trisomy 13 and trisomy 18 increases with maternal age. The incidence of DS at birth is lower at age 20 (1/1600) than at age 35 ( 1/370), but many more younger women have children than older women. So most (75-80%) DS children are born to younger women. If a couple has a child with DS, there is usually an increased risk for a second affected child. Genetic Forms of DS All individuals with DS have extra chromosome 21 material. There are 3 genetic mechanisms for trisomy 21. The first and most common, is called non-disjunction, where there is an entire extra chromosome 21 in all cells. A chromosome study (karyotype) of trisomy 21 is shown in Fig. 1. Figure 1 The second is mosaic DS, where trisomy 21 cells are mixed with a second cell line, usually "normal" (46,XX or 46,XY). Individuals with this form of DS are frequently a bit milder in their presentation, depending on the proportion of normal cells.

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