Biochemistry Flashcards

5186454034	Angelman Syndrome		0
5188181356	Li-Fraumeni Syndrome	A.D germline mutations affecting the p53 gene located on 17p13 Clinical Manifestation: onset of malignancies at young age Dx: DNA analysis of p53 Tx: Early screening,	1
5187635085	Down syndrome	47,XX,+21 most common causes: nondisjuction (95%), Simian creases 100% develop Alzheimer disease	2
5187632550	Edwards' syndrome	47,XY,+18	3
5187632551	Patau's Syndrome	47,XX,+13	4
5187630767	Klinefelter's syndrome	47,XXY	5
5187728612	Cri-du-chat- syndrome	Micro-Deletion of chromosome 5 High pitched, cat-like cry	6
5187729939	Williams Syndrome	Micro-Deletion of Chromosome 7 Deficiency of elastin Mental Retardation "Elfin" face Hypercalcemia	7
5187736762	DiGeorge Syndrome	Micro-Deletion of Chromosome 22 Thymic, parathyroid, and cardiac problems CATCH-22	8
5186447413	Prader-Willi Syndrome		9
5187635084	Turner Syndrome		10
5187768634	Achondroplasia	A.D form of dwarfism; mutation of the fibroblast growth factor receptor 3 (FGFR3) Abnormal Cartilage Synthesis Decreased Epithelial bone formation Short limbs, proportionately large body and head, "saddle nose"	11
5187796650	Polycystic Kidney Disease		12
5187801630	Familial Adenomatous Polyposis		13
5187805651	Familial Hypercholesterolemia		14
5187814087	Hereditary Hemorrhagic Telangiectasia		15
5187819292	Hereditary Spherocytosis		16
5187826209	Huntington's Disease	A.D	17
5187833269	Marfan Syndrome	A.D mutation	18
5187847973	Multiple Endocrine Neoplasia Syndromes		19
5187849977	Neurofibromatosis		20
5187858999	Tuberous Sclerosis	A.D	21
5187866773	von Hippel-Lindau Disease		22
5187878605	Albinism		23
5187880702	Autosomal Recessive polycystic kidney disease		24
5187884936	Glycogen storage diseases		25
5187887412	Hemochromatosis		26
5187891482	Mucopolysaccharidoses		27
5187893579	Phenylketonuria		28
5187893580	Sickle Cell Anemia		29
5187896677	Sphingolipidoses		30
5187896678	Thalassemias		31
5187899320	Cystic Fibrosis		32
5187915920	Bruton's agammaglobulinemia		33
5187917750	Wiskott-Aldrich Syndrome		34
5187919222	Fabry's Disease		35
5187921222	G6PD Deficiency		36
5187921223	Ocular Albinism		37
5187923465	Lesch-Nyhan Syndrome		38
5187926127	Duchenne's Muscular Dystrophy	frame shift mutation of dystrophin gene on chromosome X leading to ineffective dystrophin protein	39
5187941025	Becker's Muscular Dystrophy		40
5187941026	Hunter's Syndrome		41
5187944032	Hemophilia A and B		42
5187965292	Fragile X Syndrome		43
5187978055	Friedreich's Ataxia		44
5187982984	Myotonic Dystrophy		45