Karyotyping II Flashcards

1
Q

The study of karyotypes is made possible by?

A

staining

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2
Q

Giemsa is applied after cells have been arrested during cell division by a?

A

solution of colchicine

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3
Q

It is the inactive X chromosome in a female somatic cell?

A

Barr body

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4
Q

Amount of blood is removed from the patient.

A

5 ml

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5
Q

Are arranged into seven groups based on size and centromere location.

A

Chromosomes

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6
Q

It is obtained with Giemsa stain following digestion of chromosomes with trypsin.

[banding]

A

G-banding

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7
Q

It yields a series of lightly and darkly stained bands.

[banding]

A

G-banding

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8
Q

This regions tend to be heterochromatic, late replicating and AT rich.

A

Dark regions

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9
Q

This regions tend to be euchromatic, early replicating and GC rich.

A

Light regions

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10
Q

This method will normally produce 300- 400 bands in a normal, human genome.

[banding]

A

G-banding

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11
Q

It is the reversed of G-banding.

[banding]

A

R-banding

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12
Q

A reverse Giemsa chromosome banding method that produces bands complementary to G-bands;

[banding]

A

R-banding

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13
Q

Giemsa binds to consecutive heterochromatin, so it stains centromeres.

[banding]

A

C-banding

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14
Q

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]

A

Q-banding

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15
Q

Visualize telomeres.

[banding]

A

T-banding

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16
Q

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.

A

Silver staining

17
Q

It is a molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors.

A

Spectral karyotyping

18
Q

It’s a technique used to quantify the DNA copy number on a genomic scale.

A

Digital karyotyping

19
Q

This method is also known as virtual karyotyping.

A

Digital karyotyping

20
Q

The normal human karyotypes contains how many pairs of autosomal chromosomes?

A

22 pairs

21
Q

[3] Changes during development.

A
  1. Chromosome elimination
  2. Chromatin diminution
  3. X-inactivation
22
Q

Also known as aneuploidy, often occur as a result of nondisjunction during meiosis in the formation of a gamete;

A

Numerical abnormalities

23
Q

Often arise from errors in homologous recombination.

A

Structural abnormalities

24
Q

It is the number of complete sets of chromosomes in a cell.

A

Ploidy

25
Q

Where there are more than two sets of homologous chromosomes in the cells, occurs mainly in plants.

[ploidy]

A

Polyploidy

26
Q

Where one sex is diploid, and the other haploid.

[ploidy]

A

Haplo-diploidy

27
Q

It is a common arrangement in the Hymenoptera, and in some other groups.

[ploidy]

A

Haplo-diplody

28
Q

A process by which chromosomes replicate without the division of the cell nucleus, resulting in a polyploid nucleus.

[ploidy]

A

Endopolyploidy

29
Q

Also called “endomitosis”.

[ploidy]

A

Endopolyploidy

30
Q

It is the condition in which the chromosome number in the cells is not the typical number for the species.

[ploidy]

A

Aneuploidy

31
Q

cry of the cat.

A

Cri du chat

32
Q

From a truncated short arm on chromosome 5.

A

Cri du chat

33
Q

The name comes from the babies’ distinctive cry, caused by abnormal formation of the larynx.

A

Cri du chat

34
Q

From the loss of part of the short arm of chromosome 1.

A

1p36 Deletion syndrome

35
Q

50% of cases have a segment of the long arm of chromosome 15 missing; a deletion of the maternal genes, example of imprinting disorder.

A

Angelman syndrome

36
Q

50% of cases have a segment of the long arm of chromosome1 5 missing; a deletion of the paternal genes, example of imprinting disorder.

A

Prader Willi Syndrome