Karyotyping II Flashcards
The study of karyotypes is made possible by?
staining
Giemsa is applied after cells have been arrested during cell division by a?
solution of colchicine
It is the inactive X chromosome in a female somatic cell?
Barr body
Amount of blood is removed from the patient.
5 ml
Are arranged into seven groups based on size and centromere location.
Chromosomes
It is obtained with Giemsa stain following digestion of chromosomes with trypsin.
[banding]
G-banding
It yields a series of lightly and darkly stained bands.
[banding]
G-banding
This regions tend to be heterochromatic, late replicating and AT rich.
Dark regions
This regions tend to be euchromatic, early replicating and GC rich.
Light regions
This method will normally produce 300- 400 bands in a normal, human genome.
[banding]
G-banding
It is the reversed of G-banding.
[banding]
R-banding
A reverse Giemsa chromosome banding method that produces bands complementary to G-bands;
[banding]
R-banding
Giemsa binds to consecutive heterochromatin, so it stains centromeres.
[banding]
C-banding
Q-banding is a fluorescent pattern obtained
using quinacrine for staining. The pattern of bands is very similar to that seen in G-banding.
[banding]
Q-banding
Visualize telomeres.
[banding]
T-banding
Silver nitrate stains the nucleolar organization region-associated protein. This yields a dark region where the silver is deposited, denoting the activity of rRNA genes within the NOR.
Silver staining
It is a molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors.
Spectral karyotyping
It’s a technique used to quantify the DNA copy number on a genomic scale.
Digital karyotyping
This method is also known as virtual karyotyping.
Digital karyotyping
The normal human karyotypes contains how many pairs of autosomal chromosomes?
22 pairs
[3] Changes during development.
- Chromosome elimination
- Chromatin diminution
- X-inactivation
Also known as aneuploidy, often occur as a result of nondisjunction during meiosis in the formation of a gamete;
Numerical abnormalities
Often arise from errors in homologous recombination.
Structural abnormalities
It is the number of complete sets of chromosomes in a cell.
Ploidy
Where there are more than two sets of homologous chromosomes in the cells, occurs mainly in plants.
[ploidy]
Polyploidy
Where one sex is diploid, and the other haploid.
[ploidy]
Haplo-diploidy
It is a common arrangement in the Hymenoptera, and in some other groups.
[ploidy]
Haplo-diplody
A process by which chromosomes replicate without the division of the cell nucleus, resulting in a polyploid nucleus.
[ploidy]
Endopolyploidy
Also called “endomitosis”.
[ploidy]
Endopolyploidy
It is the condition in which the chromosome number in the cells is not the typical number for the species.
[ploidy]
Aneuploidy
cry of the cat.
Cri du chat
From a truncated short arm on chromosome 5.
Cri du chat
The name comes from the babies’ distinctive cry, caused by abnormal formation of the larynx.
Cri du chat
From the loss of part of the short arm of chromosome 1.
1p36 Deletion syndrome
50% of cases have a segment of the long arm of chromosome 15 missing; a deletion of the maternal genes, example of imprinting disorder.
Angelman syndrome
50% of cases have a segment of the long arm of chromosome1 5 missing; a deletion of the paternal genes, example of imprinting disorder.
Prader Willi Syndrome
