Name Down Syndrome Cause Anueploidy abnormal chromosome number Trisomy 21 Extra chromosome 21 Turner Syndrome Only 1 X Chromosome X0 Genotype Klinefelter Syndrome Extra X Chromsome XXY Genotype Cri du chat Breakage in Chromosome 5 Chronic Myelogenous Leukemia CML Translocation between chromosomes 9 and 22 Albinism Non functional melanin gene Sickle Cell Disease Autosomal homozygous recessive disorder Mutation in hemoglobin gene Congenitl Generalized Hypertrichosis CGH Caused by X linked dominant allele Mutant gene is atavistic present in all ancestral species Autosomal dominant Disorder of melanocyte pigment cell development characterized by white forelock Autosomal recessive Skin blisters cancer from UV radiation Autosomal recessive Impairs Cl and Na transports across Mucous buildup impairs organ function Pleitropy Piebaldism Cystic Fibrosis Xeroderma Pigmentosum Adversely affects several DNA repair genes Hemochromatosis Enzyme deficiency leads to iron buildup Syndactyly brachydactyly polydactyly Marfan Syndrome Neurofibromatosis Huntington s Disease Autosomal recessive Most common Caucasian disorder Autosomal dominant Joined short and extra digits Autosomal dominant Pleitropic Tall weak heart Autosomal dominant Mutation in TSG Non malignant tumors and deformity Autosomal Dominant Rare but lethal Palsy Dementia
View Full Document
Unlocking...