Chapter 4c: Variations in Genome Structure: Changes in Chromosome Number Flashcards
addition or subtraction of one or more chromosomes
aneuploidy
gain of chromosome/s
hyperploidy
Trisomy
2n + 1
double trisomy
2n + 1 + 1
Tetrasomy
2n + 2
loss of chromosome/s
hypoploidy
monosomy
2n - 1
double monosomy
2n - 1 -1
nullisomy
2n - 2
2n = 47
44 XX / XY + 21
- extra copy of chromosome 21
Trisomy 21
extra copy of chromosome 18
Life expectancy
– 52.5% (or 5 in 10) may live longer that 1 week
- 12.3% (1 in 10) may live longer than 5 years
- 1 year survival is rare
Trisomy 18 – Edwards Syndrome
47, XXY
- trisomic disorder
- phenotypically male with feminine characteristics
> enlarged breast
> female pubic pattern
> wide hips
Klinefelter’s Syndrome
47, XX / XY, +13
- small head
- cleft
- absent eyebrows
Trisomy 13 – Patau Syndrome
2n = 44, XO
- affects females
- one of the sex chromosomes is missing or partially missing
Monosomy X (Turner Syndrome)
Effects of Nullisomics (in plants)
- dwarf
- less tillering
- female fertile
- male sterile
- awnless