karyotyping Flashcards

1
Q

contain only one copy of each pair of
chromosome

A

gametes

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2
Q

Each chromosome contains a region called the
_______, which divides the chromosome into two
arms

A

centromere

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3
Q

two homologous X chromosomes

A

female

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4
Q

nonhomologous pair, consisting of one
X and one Y chromosome

A

male

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5
Q

Chromosomes other than sex chromosomes are
called

A

autosomes

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6
Q

numbered 1-22 in descending
order of length

A

autosomes

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7
Q

Group A

A

(1-3),

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8
Q

GRoup B

A

(4-5),

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9
Q

Group C

A

(6- 12)

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10
Q

GRoup D

A

(13-15),

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11
Q

GRoup E

A

(16-18),

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12
Q

GRoup F

A

(19-20)

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13
Q

Group G

A

(21-22)

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14
Q

The chromosomes are usually studied and
photographed while they are in metaphase of
mitosis

A

karyotype

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15
Q

What is the mitosis-inducing chemical added to the flask

A

phytohemagglutinin

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16
Q

used to stop dividing
cells at metaphase

A

colcemid

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17
Q

solution added to break open and destroy
the RBCs and swell the lymphocytes

A

salt solution

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18
Q

incubation period for karyotyping

A

2-3 days

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19
Q

used to produce a pattern of
bands that is specific to each chromosome

A

stains and dyes

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20
Q

used common method

21
Q

Chromosomal abnormalities can be detected before
birth and chorionic villus
sampling to collect cells from embryos and fetuses

A

amniocentesis

22
Q

A technique used routinely to collect fetal cells for
analysis

A

amniocentesis

23
Q

It can be performed earlier in pregnancy (8 to 10
weeks)

A

Chorionic Villus Sampling (CVS)

24
Q

loss of a single
chromosome from an otherwise diploid
genome

25
an organism gains or loses one or more chromosomes but not a complete set of chromosomes
Aneuploidy
26
gain of one chromosome
trisomy
27
– complete haploid sets of chromosomes are present
Euploidy
28
If more than two sets are present,
polyploidy
29
– three sets of chromosomes
Triploid
30
four sets of chromosomes
Tetraploid
31
This disrupts the normal distribution of chromosomes into gametes
nondisjunction
32
a single copy of a recessive gene may be insufficient to provide life sustaining function
haploinsufficiency
33
Describes instances in which more than two multiples of the haploid chromosome set are found
POLYPLOIDY
34
has 3n chromosomes / 3 sets of chromosomes
triploid
35
much more common in plants
Autopolyploidy or Allopolyploidy
36
– addition of one or more extra sets of chromosomes identical to the normal haploid complement of the same species
Autopolyploidy
37
combination of chromosome sets from different species occurring as a consequence of hybridization
Allopolyploidy
38
It can also be produced at fertilization by the simultaneous penetration of a haploid egg by two haploid sperm
dispermy
39
It can result from a failure of cytokinesis in the first mitotic division after fertilization
TETRAPLOIDY
40
tge locations of genes are altered within the genome
translocations
41
The ends produced at points of breakage are “_____” and can rejoin another broken ends
sticky
42
When a chromosome breaks in one or more places and a portion of it is lost, the missing piece is called
deletion (deficiency)
43
near one end
(terminal deletion)
44
within the interior of the chromosome
(intercalary deletion)
45
When any part of the genetic material, either a single locus or a large piece of a chromosome, is present more then once in the genome,
duplication
46
A type of chromosomal aberration in which a segment of a chromosome is turned around 180 degrees within a chromosome
INVERSIONS
47
the centromere is not part of the rearranged chromosome segmen
Paracentric inversion
48
– the centromere is part of the inverted segmen
Pericentric inversion