Genetic Disorders Associated With Meiosis PDF
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Summary
This document provides an overview of various genetic disorders associated with meiosis. It includes explanations of homologous chromosomes, karyotyping, and different chromosomal abnormalities like Turner syndrome, Down syndrome, Klinefelter syndrome, and Trisomy X, also including XYY syndrome. The document also covers the concept of ploidy level and different types of aneuploidy.
Full Transcript
Good Day! Let us pray! Genetic Disorders Associated with Meiosis Human body is composed of how many chromosomes? 46 23 pairs (diploid) Homologous Chromosomes - Refers to set of chromosomes having the same length and appearance that was inherited from the parents. Types...
Good Day! Let us pray! Genetic Disorders Associated with Meiosis Human body is composed of how many chromosomes? 46 23 pairs (diploid) Homologous Chromosomes - Refers to set of chromosomes having the same length and appearance that was inherited from the parents. Types of Chromosomes 1.Autosomes 2.Sex chromosomes Types of Chromosomes 1.Autosomes - 1-22 pairs of chromosomes 1.Sex chromosomes - 23rd pair Two Sex Chromosomes X,Y Largest Smallest chromosomes chromosomes Female Sex Chromosome XX Male Sex Chromosome XY Karyotyping - Method of viewing the cell’s complete set of chromosomes group together in pairs arranged according to size from largest to smallest. (KARYOGRAM) - In meiosis the expected number of chromosomes is 23 ______________? What if meiosis does not occur properly? It will lead to abnormal chromosome count. Chromosomal Abnormalities - results of errors in cell division. - Occurs when a section of a chromosome is deleted or duplicated. Nondisjunction - Homologous chromosomes or sister chromatids fail to separate during meiosis Ploidy Level - refers to the number of sets of chromosomes in a cell Euploidy- the usual number of sets of chromosomes Aneuploidy - the presence of additional or missing chromosomes Types of Aneuploidy Monosomy Trisomy Monosomy - Having only one chromosome or the absence of chromosomes pair Trisomy - Having three or some extra copy of chromosomes Monosomy Example Turner Syndrome (45, XO) - Instead of having 2 sex chromosomes, they only got one chromosome. - Commonly seen in female individuals. Turner Syndrome (45, XO) - associated with underdeveloped reproductive organs. - short, broad chest, webbed neck and hands/feet puffiness Trisomy Example Down Syndrome / Trisomy 21 Down Syndrome / Trisomy 21 - Three copies of chromosomes 21 Klinefelter Syndrome / 47, XXY - have one or more than 1 extra chromosomes (48, XXXY) (49, XXXXY) - severe forms of abnormality Klinefelter Syndrome / 47, XXY - happen in males - underdeveloped reproductive organs - delayed or incomplete puberty - Breast enlargement - Language-based learning disability Jacob Syndrome / 47, XYY Supermale Syndrome Criminal Syndrome - male has an extra Y chromosome Trisomy X (47, XXX) (Superfemale) - abnormal presence of an extra X chromosomes Trisomy X (47, XXX) - happens in female - normal in appearance but have difficulty in speech and learning - Infertility Answer this! 1.Homologous chromosomes or sister chromatids fail to separate during meiosis. Answer: Nondisjunction 2. This results of errors in cell division and occurs when a section of a chromosome is deleted or duplicated. Chromosomal Abnormalities 3. Method of viewing the cell’s complete set of chromosomes group together in pairs Karyotyping 4. Picture in the method of karyotyping is called _______. Karyogram 5. The type of chromosomes that is directly linked to the development of sexual characteristics in an organism. Sex chromosomes 6. XXX 7. XYY 8. XXY 9. Three copies of chromosome 21 10. XO