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Details Title: Genetic Diseases Description: Disorders Total Flash Cards: 25 Created: 01/08/2004 19:09:34	To study from this set of flash cards, or to create your own your own study flash cards, register HERE. If you are already a registered user, CLICK HERE.
Cards Term Tay Sachs Definition caused by a gene on chr. 15 and charcterized by slow growth and mental retardation Term Cleft Lip and Claft Palate Definition Two Conditions that involve a split or seperation in the lip or roof of the mouth; specific cause not known Term Thalassemia Definition autosomal recessive blood disorder caused by gene on chr. 11 and 16; most prevalent in populations of Mediterranean descent Term Phenylketonuria Definition caused by gene on chr. 12 and characterized by neurological problems and inability to break down phenalalanine Term Hemophilia Definition sex linked blood disorder that results in the inability of the blood to clot Term Klinefelter Definition trisomy syndrome that results in males with underdeveloped sex organs, higher incidence of breast cancer, sterility, and sexual disfunction; XXY Term Huntingtons Definition autosomal dominant disorder caused by a gene on chr.4 that results in damage to nerve cells and usually shows up after the age of 30 Term Sickle Cell Anemia Definition autosomal recessive disorder caused by the HBB gene on chr.11 that results in hemoglobin problems; most prevalent in African Americans Term Prader Willi Definition syndrome characterized by feeding problems, rapid obesity, short stature, small hands/feet, cognitive impairment, and underdeveloped sex organs Term Spina Bifida Definition Neural tube defect possibly caused by lack of folic acid during pregnancy Term Patau Definition trisomy syndrome resulting in cleft lip/palate, extra fingers/toes, heart defects, low set ears, small head, sloping forehead Term Edward Definition trisomy syndrome of chr.18 that results in low birth weight, redundant skin folds, mental retardation; usually die by 2 months age Term Down Definition Trisomy of chromosome 21 caused by nondisjunction or translocation that results in mental retardation Term Musclar Dystrophy Definition sex linked disorder that results in weakened muscles; degenerative; usually starts in legs Term Waardenberg Definition autosomal dominant problem located on chr.2 reulsting in deafness, wide bridge of nose, 2 different colored eyes, white forlock, white eyelashes, and premature greying Term Autism Definition developmental disability that affects the way a person communicates; exhibits repetitive behavior and resistence to changes in routine; seems to have a strong genetic component Term Marfan Definition syndrome caused by gene on chr. 15 and charcterized by skeletal, ocular, and heart problems; Lincoln was thought to have a form of this Term Fragile X Definition sex linked disorder caused by repetivtive base sequence CGG that results in mental retardation and hyperactivity Term Albinism Definition disorder where the body does not produce melanin Term Achondroplasia Definition autosomal dominant disorder caused by a gene on chr. 4 that results in dwarfism Term Turner Definition monosomy syndrome that results in females with short stature, webbed neck, and immature ovaries; XO Term Cystic Fibrosis Definition autosomal recessive disoreder caused by a gene on chr. 7 that results in excess fluid that causes problems with respirations and digestion Term Progeria Definition autosomal dominant disorder that results in rapid aging Term Blue Rubber Bleb Nevus Definition syndrome charcterized by abnormal blood vessels that affect the skin and gastrointestinal tract Term (22b) Cri du Chat Definition (22b) caused bye deletion of chr. 5 resulting in high pitched cry; more common in females