PPT-Lesch-Nyhan Syndrome (LNS) and the

HPRT1 Gene Billy Maes What is LeschNyhan Syndrome Gouty arthritis Kidney stones Loss of motor control Cognitive problems Selfmutilation What is LeschNyhan Syndrome https youtube1U6LDpFLFEt58s. This means that 1 in every 733 babies is born with this condition Although parents of any age may have a child with Down syndrome 80 are born to women under the age of 35 NICHCY Disability Fact Sheet 4 June 2010 Definition Definition Definition Defi K F LESCH AND J D W ILSON Department of Earth and Atmospheric Sciences University of Alberta Edm onton Alberta Canada L A H ARPER Agricultural Research Service USDA Watkinsville Georgia Manuscript received 26 April 2004 in final form 30 September 20 . Nyhan. Syndrome and Self-Injurious Behavior. Alexa Pereira. Lesch. . Nyhan. syndrome. A rare X-linked recessively inherited disorder.. Affects 1 in 380,000 births.. First described in 1964. A disorder of the enzyme hypoxanthine-guanine . Purine catabolism. Purine degradation. Purine Salvage Pathway. From normal turnover of cellular nucleic acids. Obtained from the diet. Reutilization of adenine, hypoxanthine, and guanine. Two enzymes:. Trisomy . 21 . 47,XX,+21 . 47,XY,+21. Module 2 Culminating. Down Syndrome: An Overview. Down Syndrome . is a set of physical and cognitive symptoms . (mild to moderate intellectual delays) . that results from having . Miss Sally Tennant. Consultant Paediatric Orthopaedic Surgeon. RNOH, Stanmore. St Mary’s Hospital Paddington. ABNORMAL COLLAGEN. Collagen Type 6. Almost all tissues. Extracellular matrix. Muscle hypotonia. A genetic disorder that causes delays in physical and intellectual development.. Causes of Down Syndrome. Caused by extra genetic material from chromosome 21. Prenatal Testing. Amniocentesis:. procedure in which a small sample of amniotic fluid is drawn out of the uterus through a needle inserted in the abdomen. APM Resident Education Curriculum. Thomas W. Heinrich, M.D.. Associate Professor of Psychiatry & Family Medicine. Chief, Psychiatric Consult Service at . Froedtert. Hospital. Department of Psychiatry & Behavioral Medicine. Preceded by Educating children with Velo-Cardio-Facial Syndrome: also known as 22q11.2 deletion syndrome and DiGeorge Syndrome / Donna Cutler-Landsman, editor. 2013. Food Group Foods to Eat Foods to Limit Meats, Poultry, any made with sweetened fruit Dairy choose low lactose, lactose free dairy if regular dairy is not sweetened ice cream, sweetened Patau’s syndrome: options after a higher chance screening result pregnancyre/screeningfordownsedwardspataussyndrome . This flowchart shows your options. Afulltextdescriptionthispathway is also What is Down Syndrome?. Down syndrome is a condition in which a person has an extra chromosome. . Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. . In 1866, an English doctor named John Langdon DOWN described the characteristics of Down syndrome. . What were some of the characteristics John Langdon Down observed?. Your body is made up of TRILLIONS of cells. Each cell is a copy of a single cell that divided itself to make all the cells in your body. Your cells need instructions to create who you are. Your DNA, genes and chromosomes work together to tell your body how to form and function. .