Karyotyping quiz Flashcards

1
Q
  • sex chromosomes content
  • presence or absence of individual chromosomes
  • nature or extent of chromosomal aberrations
A

KARYOTYPE

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2
Q

samples can be used for Karyotyping?

A

Samples can be taken from:
* blood
* bone marrow
* skin sample from an adult
* amniotic fluid
* extra embryonic cells from chronic villi from an unborn child

These samples allow for chromosomal analysis.

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3
Q

stimulate mitosis.

A

Lectins

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4
Q

Cell division is arrested by using:

A

Colchicine

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5
Q

How can chromosomes be distinguished?

A

Chromosomes can be distinguished by:
* length of the arms
* shape
* general appearance

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6
Q

Term used to describe a cell with 3 sets of chromosomes(3n)

A

Triploidy

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7
Q

XXY sex chromosme pertains to:

A

Klinefelter’s Syndrome

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8
Q

A female with “single X” chromosome instead of “double X” sex chromosome result into

A

Turner Syndrome

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9
Q

*1/1000
*above average in height
*anti social behavior

A

Jacob Syndrome

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10
Q
  • dark regions tend to be heterochromatic, late replicating, and AT rich
  • light regions tend to be euchromatic, early-replicating, and GC rich
A

G-Banding

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11
Q

cells are placed that causes them to take on water, thereby increasing their overall size.

A

Hypotonic Solution

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12
Q

chromosome number that is a multiple of the normal haploid set.

A

Polyploidy

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13
Q

It is the condition in which the chromosome number in the cell is not that typical number for the species

A

Aneuploidy

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14
Q

having only one member of a homologous pair.

A

Monosomy

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15
Q

having three copies of a single chromosome.

A

Trisomy

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16
Q

rarely seen in spontaneous abortion and live births

A

Autosomal Monosomy

17
Q
  • most lethal
  • accounts for 50% of cases of chromosomal abnormalities causing fetal death
  • risk increases after age 35
A

Autosomal Trisomy?

18
Q

*also known as Patau Syndrome (47,+13).
* occurs in 1/5,000
* survival time at least 1 month

A

Trisomy 13

19
Q

*also known as Edward Syndrome (47,+18).
* occurs in 1/10,000
* survival time: 2-4 months

A

Trisomy 18

20
Q

*Down Syndrome (47,+21).
* occurs in 1/700
* 40% have congenital heart defects

A

Trisomy 21

21
Q

utilizes specific gene locus probes in analyzation of chromosomes

A

FISH

22
Q

reagent is used in silver staining technique to visualize the nucleolar organization of chromosomes

A

Silver nitrate

23
Q

The arresting phase of mitosis for karyotyping analysis

A

Metaphase

24
Q

FISH involves Characterization of

A

Specific segments of genes

25
Q

Observed in karyotyping

A

*General appearance of chromosome
*Lenght of chromosomes arms
*Shape of chromosome

26
Q

Trisomy of chromosome 21 results into

A

Down syndrome

27
Q

is a fluorescent pattern
obtained using quinacrine for staining. The
pattern of bands is very similar to that
seen in G-banding.

A

Q-banding

28
Q

For karyo typing analysis of a fetus, which of the following is the least ideal sample

*Maternal blood
*Extra-embryonic cells
*Amniotic fluid
*Chorionic villi sample

A

Amniotic fluid

29
Q

Dye used in karyotyping

A

Giemsa

30
Q

Its is a technique used to quantify the DNA copy number on a genomic scale

A

Digital karyotyping