7.2 染色体畸变（数目改变）幻灯片.pptVIP

Down Syndrome and Maternal Age As maternal age increases, the risk of having a baby with Down syndrome increases At age 20 less than 1 in 1000 births results in down syndrome After age 40, greater than 1 in 100 births results in Down syndrome Trisomy 18: Edward’s Syndrome (47,+18) small at birth, very slow growing, mental retardation, malformed feet, heart malformations. For unknown reasons, 80% of live born trisomy 18 babies are female. Trisomy 13: Patau Syndrome (47,+13) Facial malformations, eye defects, extra fingers or toes, feet with protruding heels, malformations of the brain, nervous system, heart defects Frequencies of Trisomies in Spontaneous Abortions Some Chromosomes are rarely seen as trisomies in abortuses (1, 5, 11, 17, 19) Other chromosomes occur frequently as trisomies (16) The reasons for these differences are not clear. Aneuploidy:Alterations in Chromosome Number Triploidy Triploid individuals are born infrequently, and survive for only a short time In this circumstance, all of the proper genetic material is present, only there are three copies of each chromosome rather than two. Causes of Genetic Abnormalities Unequal crossing over can cause changes in gene regions with similar or repeated sequence Non-disjunction (不分开) can cause changes in chromosome number (aneuploidy，非整倍体) Alterations in Chromosome Number in plant Diploidy Diploidy is the state of having two copies of every single gene-like pairs of shoes. Humans, and many of the organisms with which we are familiar (flies, zebras, potatoes), are diploid. We have two copies of every gene in our bodies. For many genes, these copies are identical matches (they are homozygous). For others, there are subtle differences between the two copies (they are heterozygous). Diploidy Not all organisms are diploid as adults, some are haploid. For sexual reproduction to occur, there must be both a diploid and a haploid phase of the life cycle. Polyploidy (多倍体) and Speciation (物种形成) (1)