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10 Cards in this Set

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If trying to rule out mosaicism then?
Use two different tissue samples for analysis
What are some suitable cells that can be submitted for cytogenetic studies?
1. Lymphocytes found in blood (peripheral blood)
2. Fibroblasts from skin & tissue biopsies
3. Bone marrow cells
4. Fetal cells (amniotic fluid or from chorionic villus biopsies)
How do we grow cells that will be used for cytogenetic studies?
1. Mitogens are added to stimulate cells to divide
2. Incubate for 2-3 days
3. Cocemid is added to stop mitosis in metaphase
4. Centrifuge cells to concentrate
5. Add a hypotonic solution and fix cells, then drop cells on slide to break them
6. Add trypsin to digest proteins associated with DNA
7. Add Giemsa stain
There are 2 types of banding techniques
1. Techniques that produce thin, alternating bands along the length of the entire chromosome (G, Q, R)

2. Techniques that stain onl y a specific band or region of some or all of the chromosomes (C, T, NOR, DAPI)
What banding stains constitutive heterochromatin?
C banding
How do these stain with the Geimsa stain?

Euchromatin, constitutive heterochromatin, & facultative heterochromatin
Euchromatin: stains G negative

Constitutive heterochromatin: stains G positive

Facultative heterochromatin: stains either G+ or G-
Term that indicates a cell with a set or sets of 23 chromosomes

Ie: haploid, diploid, polyploid
Euploid
Term that indicates exact multiples of the haploid chromosome number, greater than diploid

Ie: triploidy, tetraploidy
Polyploidy
Any other abnormal chromosome number (not in sets of 23)

Ex: Trisomy, Monosomy

Result of nondisjunction
Aneuploidy
Failure of chromosomes to separate normally during cell division either meiosis or mitosis
Nondisjunction