Changes in Chromosomes
addition or substruction of one or more chromosomes
aneuploidy
Two types of aneuploidy
gain of chromosomes
Hyperploidy
loss of chromosomes
Hypoploidy
Types of Hyperploidy
trisomy
2n + 1
double trisomy
2n + 1 + 1
tetrasomy
2n + 2
Types of hypoploidy
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
Origin of Aneuploids
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
only one copy of genome due to early separation of chromatids
monoploidy (X)
detection of monoploidy