Chapter 4c - Cytogenetics Flashcards
Changes in Chromosomes
- Aneuploidy
- Euploidy
addition or substruction of one or more chromosomes
aneuploidy
Two types of aneuploidy
- Hyperploidy
- Hypoploidy
gain of chromosomes
Hyperploidy
loss of chromosomes
Hypoploidy
Types of Hyperploidy
- trisomy
- double trisomy
- tetrasomy
trisomy
2n + 1
double trisomy
2n + 1 + 1
tetrasomy
2n + 2
Types of hypoploidy
- monosomy
- double monosomy
- nullisomy
monosomy
2n-1
double monosomy
2n -1 -1
nullisomy
2n -2
trisomy 21
Down syndrome
trisomy 18
Edwards syndrome
XXY
Klinefelter’s Syndrome
trisomy 13
Patau Syndrome
Effects of Nullisomics
- dwarf
- less tillering
- female fertile
- male fertile
- awnless
Origin of Aneuploids
- loss of chromosomes
- non-disjunction of chromosomes and chromatids
- irregulariteis in chromosome distribution
- formation of multiple spindles
exam of a single cell type, as often found in fluid specimens
Cytology
chromosome mutation resulting in a change in the whole genome
euploidy
Types of Euploidy
- monoploidy
- polyploidy
only one copy of genome due to early separation of chromatids
monoploidy (X)
detection of monoploidy
- morphological
- cytological
- highly sterile