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

A

G banding

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

A

Monosomy

25
Q

an organism gains or loses one or
more chromosomes but not a complete set of chromosomes

A

Aneuploidy

26
Q

gain of one
chromosome

A

trisomy

27
Q

– complete haploid sets of chromosomes
are present

A

Euploidy

28
Q

If more than two sets are present,

A

polyploidy

29
Q

– three sets of chromosomes

A

Triploid

30
Q

four sets of chromosomes

A

Tetraploid

31
Q

This disrupts the normal distribution of chromosomes
into gametes

A

nondisjunction

32
Q

a single copy of a recessive gene
may be insufficient to provide life sustaining function

A

haploinsufficiency

33
Q

Describes instances in which more than two
multiples of the haploid chromosome set are
found

A

POLYPLOIDY

34
Q

has 3n chromosomes / 3 sets of chromosomes

A

triploid

35
Q

much more
common in plants

A

Autopolyploidy or
Allopolyploidy

36
Q

– addition of one or more
extra sets of chromosomes identical to the
normal haploid complement of the same
species

A

Autopolyploidy

37
Q

combination of
chromosome sets from different species occurring as a consequence of
hybridization

A

Allopolyploidy

38
Q

It can also be produced at fertilization by the
simultaneous penetration of a haploid egg by two
haploid sperm

A

dispermy

39
Q

It can result from a failure of cytokinesis in the first
mitotic division after fertilization

A

TETRAPLOIDY

40
Q

tge locations of genes are altered within the
genome

A

translocations

41
Q

The ends produced at points of breakage are
“_____” and can rejoin another broken ends

A

sticky

42
Q

When a chromosome breaks in one or more places
and a portion of it is lost, the missing piece is called

A

deletion (deficiency)

43
Q

near one end

A

(terminal deletion)

44
Q

within the interior of the
chromosome

A

(intercalary deletion)

45
Q

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,

A

duplication

46
Q

A type of chromosomal aberration in which a
segment of a chromosome is turned around 180
degrees within a chromosome

A

INVERSIONS

47
Q

the centromere is not part
of the rearranged chromosome segmen

A

Paracentric inversion

48
Q

– the centromere is part of
the inverted segmen

A

Pericentric inversion