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23 Cards in this Set

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cytogenetics
the field that involves the microscopic examination of chromosomes. Allowing the detection of individual with abnormal chromosomes number or structure.
What are the main features that are used to identify chromosomes?
The size, location of the centromere, banding patters.
What two basic ways does chromosome variation occur?
in structure and number
The study of chromosome variation is important for what reasons?
They can have a mjor effect on the phenotype of an organism, and the offspring, and is an important force in the evolution of species.
Masaicism
the presence of two or more cell lines in an individual, one or more of which are abnormal
Euploidy
changes in the entire set of chromosomes, and it occurs ocassionally in animals and frequently in plants
Aneuploidy
changes in individual chromosomes rather than in the complete set, regarded as abnormal conditions
Monosomy
one homologue is missing
2n-1
Trisomy
one extra homologue is present
2n+1
tetrasomy
Two extra homologue are present
2n+2
Double monosomy
Two different homologue are missing
2n-1-1
Double trisomy
two different extra homologue are present
2n+1+1
Nullisomy
a whole pair of chromosomes is missing
2n-2
Haplo-IV in flies
are monosomic and they are weaker and smaller
Turner syndrome(Monosomy)
There is only one X present(they Y or the other X is missing)
45,X or 45,XO
45-50% are mosaics 46,XX/45,XO
Down syndrome(trisomy)
There is an extra 21 chromosome
46,XX or XY, +21
Triplo IV in flies
have no visible abnormalities
Edwards syndrome(trisomy)
there is an extra 18 chromosome
46, XX or XY, +18
10% are mosaics
Patau syndrome(trisomy)
has an extra 13 chromosome
47, XX or XY, +13
Klinefelter syndrome(trisomy)
there are extra sex chromosomes
47,XXY
10% are mosaics
*the more extra sex chromosomes the worst the syndrome is *
47, XXX syndrome
The more X the more deadly the syndrome. Usually benign consequences, under developed of genetalia, mental retardation
Tetra-X and penta X karyotes
are more severe than the 47 XXX syndrome
47, XYY condition
above average height
sub-average intelligence