Pathophysiology - Genetics

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Aneuploidy a somatic cell that has one or two missing or extra chromosomes (caused by non-disjunction: failure of chromosomes to separate 1. : normally) Autosomes 22 of the 23 pairs (not sex chromosomes) 2. : Compare the survival rate of children born with polyploidy and aneuploidy (both autosomes and sex chromosomes). 3. : Polyploidy: Autosomes: lethal Sex chromosomes: not lethal Aneuploidy: Autosomes: Monosomy is lethal, trisomy is not necessarily lethal Sex chromosomes: less serious than that of autosomes Describe the genotype and phenotype of persons with Down syndrome Genotype: trisomy of the 21st chromosome, Phenotype: 4. : slanting of the eyelids, small mouth, ears, hands and feet Diploid cells that have 46 chromosomes (somatic cells) 5. : Gametes sex cells 6. : Haploid cells that have 23 chromosomes (sex cells) 7. : Homologous chromosomes chromosomes that are identical to each other 8. : Is Down syndrome an example of autosomal aneuploidy or sex chromosome aneuploidy? Example of autosomal aneuploidy 9. : Karyotype: an ordered display of chromosomes 10. Meiosis: division gametes undergo 11. Mitosis: division somatic cells undergo 12. Monosomy: cell containing 1 copy of one chromosome 13. Polyploidy: cell that has more than the diploid number 14. Sex chromosomes: the 23rd pair of chromosomes 15. Somatic cells: all cells in the body other than gametes 16. Tetraploidy: cell that has 4 copies of each chromosome rather than 2 17. Triploidy: cell that has 3 copies of each chromosome rather than 2 18. Trisomy: cell containing 3 copies of one chromosome 19. What are the major health concerns of Down syndrome?: Major health concerns: hearing deficits, CHD, hypothyroidism, higher risk 20. for early onset of Alzheimer's Disease What does 47, XY, +21 mean?: 47, XY, +21 means: aneuploidy (47 chromosomes rather than 46) male, extra chromosome is on the 21st 21. pair What gene on what chromosome determines gender?: The SRY gene on the Y-chromosome determines gender 22. What is the most common kind of chromosomal mosaicism?: Down syndrome mosaicism 23. XO: Female 24. XXXX: Female 25. XXXY: Male 26.