karyotyping Flashcards

1
Q
A
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2
Q
  • Humans have a diploid number (2n) of ___
    chromosome
A

46

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3
Q

The gametes contain only _ copy of each pair of
chromosome

A

one

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4
Q

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

A

centromere

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5
Q

Chromosomes can be classified
according to the location of the
__

A

centromere

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6
Q

metacentric
submetacentric
acrocentric - near the end
telocentric - at the end

A

metacentric
submetacentric
acrocentric - near the end
telocentric - at the end

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7
Q

Human males and females have one pair of sex
chromosomes that are not completely
__

A

homologous

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8
Q

Females have two homologous ___chromosomes

A

X

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9
Q

Males have a nonhomologous pair, consisting of __chromosome

A

one X and one Y

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10
Q

Chromosomes other than sex chromosomes are
called __

A

autosomes

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11
Q

The autosomes are numbered 1-22
in __ order of length

A

descending

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12
Q

The sex chromosomes are labelled
as __

A

X and Y

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13
Q

On the basis of size and centromere
placement, human autosomal
chromosomes are divided into
seven groups

A

A (1-3), B (4-5), C, (6-12), D (13-15), E (16-18), F (19-20), and G (21-22)

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14
Q

Karyotype

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

A

metaphase

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15
Q

They are arranged in pairs according
to size and centromere location to
form a __

A

karyotype

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16
Q

Chromosome ___ are
used to identify specific regions on each
chromosome

A

banding patterns

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17
Q

The short arm of each chromosome is
designated the _, and the long arm
the ___

A

p arm; q arm

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18
Q

Each arm is subdivided into numbered
__ beginning at the centromere

A

regions

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19
Q

Within each region, the bands are
identified by ___

A

number

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20
Q

This address consists of the
____

A

chromosome number (1), the
arm (q), the region (2), and
the band (4)

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21
Q

Karyotypes are constructed by using ___ from a number of sources

A

cells

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22
Q

One of the most common methods of preparing cells begins with a ___ sample

A

blood

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23
Q

Few drops of blood are added to a flask containing a ___ growth medium

A

nutrient

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24
Q

A mitosis-inducing chemical such as ___ is added to the flask

A

phytohemagglutinin

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25
Q

the cells are grown for __ days at body temperature in an incubator

A

2 or 3

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26
Q

A drug such as ___ is added to stop dividing cells at metaphase

A

Colcemid

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27
Q

Over a period of about 2 hours of treatment, all cells entering mitosis are arrested in
___

A

metaphase

28
Q

The blood cells are concentrated by ___

A

centrifugation

29
Q

A ___ solution is added to break open and destroy the RBCs and swell the lymphocytes

A

salt

30
Q

Fixation in a mixture of ___

A

methanol and acetic acid

31
Q

The swollen __ are dropped onto a microscope slide

A

lymphocytes

32
Q
  • The fragile cells will break open, spreading )___ chromosomes onto the slide
A

metaphase

33
Q

The preparation is partially digested with __

A

trypsin

34
Q

After staining, the preparation is examined with a microscope and a cluster of metaphase
chromosome is located

true or falsw

A

true

35
Q

___ are prepared from the cluster of metaphase
chromosomes

A

Computer generated karyotypes

36
Q

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

A

Stains and dyes

37
Q

The most common method is ___, in which
chromosomes are first treated with an enzyme (trypsin) that
partially digest chromosomal proteins and then are stained
with Giemsa stain

A

G-banding

38
Q

The resulting pattern of bands is used to identify individual
chromosomes in cytogenetic analysis

true or false

A

true

39
Q

Metaphase chromosomes have a total of about __ band

A

550

40
Q

treat metaphase spreads with the chemical quinacrine mustard. Observe fluorescent banding pattern with a special ultraviolet light microscope

A

q banding

41
Q

heat metaphase spreads at high temperature to achieve partial denaturation of DNA. Stain with Giemsa stain. Observe with light microscope

A

R banding

42
Q

chemically treat metaphase spreads to extract DNA from the arms but not the centromeric regions of chromosomes. Stain with Giemsa stain ad obserce with light microscope

A

c banding

43
Q

pattern is the reverse of the G bandig

A

R banding

44
Q

darkly stained c band centromeric region of the chromosome corresponds to region of constitutive heterochromatin

A

c banding

45
Q

A karyotype provides several kinds of information

A
    1. The number of chromosomes
    1. Sex chromosome content
    1. Presence or absence of individual chromosomes
    1. Nature and extent of any large structural abnormality
46
Q

Almost any cell with a nucleus can be used to make a __

A

karyotype

47
Q

In adults, ___ are used routinely

A

lymphocytes, skin cells (fibroblasts), and cells from biopsies or surgically
removed tumor cells

48
Q

Chromosomal abnormalities can be detected before birth by using ___ sampling to collect cells from embryos and fetuses

A

amniocentesis and
chorionic villus

49
Q

A technique used routinely to collect fetal cells for analysis

A

Amniocentesis

50
Q

The fetus and placenta are located by ultrasound, and a needle is inserted through the abdominal and uterine walls (avoiding the placenta and fetus) into the amniotic sac
surrounding the fetus

A

Amniocentesis

51
Q

Amniocentesis

Approximately___ of fluid is withdrawn by syringe

A

10-30

52
Q

The fluid is mostly fetal urine containing cells shed from the skin, respiratory tract, and
urinary tract of the fetus

true or false

A

true

53
Q

Amniocentesis

Cells are isolated from the fluid by ___

A

centrifugation

54
Q

Karyotype analysis makes it possible to diagnose the sex of the fetus

t or f

A

t

55
Q

Amniocentesis is not performed until the ___ week of pregnancy

A

16th

56
Q

Before the 16th week, there is very little amniotic fluid and contamination of the sample with maternal
cells is often a problem

t or f

A

t

57
Q

Amniotic cells can be analyzed to detect ____

A

biochemical disorders or chromosome abnormalities

58
Q

Advance maternal age – risk of having children with chromosome abnormalities increases dramatically after
age _

A

35

59
Q

The procedure is normally used under certain condition

A
  1. Advance maternal age – risk of having children with
    chromosome abnormalities increases dramatically after
    age 35
    * 2. Previous child with a chromosomal aberration
    * 3. A parent with a chromosome rearrangement
    * 4. X-
60
Q

CVS retrieves fetal tissue from the __

A

placenta

61
Q

This has several advantages over amniocentesis

A

Chorionic Villus Sampling

62
Q

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

A

orionic Villus Sampling

63
Q

Because placental cells are already dividing and do not have to be induced to
begin mitosis, karyotypes are available within a few hours or a few days

t or f

A

t

64
Q

his procedure, a flexible catheter is inserted through the vagina or
abdomen into the uterus, guided by ultrasound images

A

Chorionic Villus Sampling

65
Q

Some chorionic villi are removed by ___

A

suction

66
Q

__ is used less often than amniocentesis

A

CVS

67
Q

It offers early diagnosis of genetic diseases, and if termination of pregnancy ___9 to 12 weeks than at 16 week

A

is elected, maternal risks are lower at