Aneuploidy

Autosomes
Compare the survival rate of children born with polyploidy and aneuploidy (both autosomes and sex chromosomes).
Describe the genotype and phenotype of persons with Down syndrome
Diploid
Gametes
Haploid
Homologous chromosomes
Is Down syndrome an example of autosomal aneuploidy or sex chromosome aneuploidy?
Karyotype
Meiosis
Mitosis
Monosomy
Polyploidy
Sex chromosomes
Somatic cells
Tetraploidy
Triploidy
Trisomy
What are the major health concerns of Down syndrome?
What does 47, XY, +21 mean?
What gene on what chromosome determines gender?
What is the most common kind of chromosomal mosaicism?
XO
XXXX
XXXY
1. : a somatic cell that has one or two missing or extra chromosomes (caused by non-disjunction: failure of chromosomes to separate
normally)
2. : 22 of the 23 pairs (not 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
4. : Genotype: trisomy of the 21st chromosome, Phenotype:
slanting of the eyelids, small mouth, ears, hands and feet
5. : cells that have 46 chromosomes (somatic cells)
6. : sex cells
7. : cells that have 23 chromosomes (sex cells)
8. : chromosomes that are identical to each other
9. : Example of autosomal aneuploidy
10. : an ordered display of chromosomes
11. : division gametes undergo
12. : division somatic cells undergo
13. : cell containing 1 copy of one chromosome
14. : cell that has more than the diploid number
15. : the 23rd pair of chromosomes
16. : all cells in the body other than gametes
17. : cell that has 4 copies of each chromosome rather than 2
18. : cell that has 3 copies of each chromosome rather than 2
19. : cell containing 3 copies of one chromosome
20. : Major health concerns: hearing deficits, CHD, hypothyroidism, higher risk
for early onset of Alzheimer's Disease
21. : 47, XY, +21 means: aneuploidy (47 chromosomes rather than 46) male, extra chromosome is on the 21st
pair
22. : The SRY gene on the Y-chromosome determines gender
23. : Down syndrome mosaicism
24. : Female
25. : Female
26. : Male
Pathophysiology - Genetics
Study online at quizlet.com/_1meve