Chapter12HumanGenetics.pptVIP

Chromosomes Changes Deletion: is loss of a chromosome segment as when a terminal segment is lost or when viruses, chemical or irradiation cause breaks in a chromosome region Example: Cri-du-chat (deletion of chromosome of 5 Changes in Chromosome Number Aneuploidy is a condition in which the gametes or cells of an affected individual end up with one extra or one less chromosome than is normal Continue.. Polyploidy is the presence of three or more of each type of chromosome in gametes or cells Common in plants but fatal in humans A chromosome number can change during mitotic or meiotic cell division or during the fertilization process Tetraploid germ cells can result if cytoplasmic division does not follow normal DNA replication or mitosis Nondisjunction At anaphase I or anaphase II frequently results in a change in chromosome number If gamete with an extra chromosome (n+1) joins a normal gamete at fertilization the diploid cell will be 2n+1, this condition is called trisomy If an abnormal gamete is missing a chromosome, the zygote will be 2n -1 monosomy Down Syndrome Down syndrome results from trisomy 21 1 in 1,100 liveborns in North America are affected Mental Retardation Heart Defects Frequently occur with women over the age of 35 Changes in Sex ChromosomesFemales Turner Syndrome Whose cells have only one X chromosomes (XO) Infertile Shorter life expectancy Premature aging 75% of the cases are due to nondisjunction in the father Changes in Sex ChromosomesFemales XXX Condition Females inherits 3, 4, or 5 chromosomes Girls are taller and slimmer than average Fertile Fall in the normal range of appearance and social behavior Changes in Sex ChromosomesMales Klinefelter Syndrome Nondisjunction results of an extra X chromosome (XXY) 67% results from a nondisjunction in the mother Sterile Slight Mental Retardation Body Feminization Changes in Sex ChromosomesMales XYY Extra Y chromosome in these males Fertile Taller than average Slightly mental retarded Er