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BATTERY REVIEWER - CYTOGENETICS > CYTOGENETICS - MIDTERM > Flashcards

CYTOGENETICS - MIDTERM Flashcards

1
Q

Anaphase lag during mitosis of an autosome
will lead to formation of a daughter cell with
which of the following abnormalities?

A

With 1 normal chromosome

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2
Q

Which of the following forms of aneuploidy
is characterized by two missing homologous
chromosomes?

A

Nullisomy

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3
Q

In FISH technique, the chromosomes are
fixed on a glass slide. Which is done next?

A

NaOH is added to denature the DNA.

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4
Q

Nondysjunction is most common during
which of the following situations?

A

Oogenesis in elderly female

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5
Q

Nondysjunction occurring during meiosis I
and is fertilized by a normal gamete can give
rise to which of the following zygotes?

A

Monosomic

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6
Q

Sex chromosomes are different between
males and females. Both male (sperm) and
female (oocytes) gametes contain one copy
of a sex chromosome, but in oocytes this
chromosome is X and in sperm it could be X
or Y.

A

True

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7
Q

Which of the following structural
chromosomal abnormalities does not involve
loss of genetic material?

A

Inversion

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8
Q

Multiple probes are used in the following
EXCEPT

A

Q banding

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9
Q

At what temperature should blood specimen
for karyotyping

A

Room temperature

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10
Q

In animals, mutation in this usually affect
tissues that have a high energy demand:

A

mtDNA

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11
Q

Alternative forms of genes are called

A

alleles

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12
Q

Which is INCORRECT about the classical
cytogenetic technique?

A

It may be done on fixed tissues

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13
Q

When a break in the chromosome affects a
single chromatid, it can be assumed that the
break occurred during which of the
following phases of the cell cycle?

A

G2

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14
Q

Where is genetic information passed on
through extranuclear inheritance NOT
located?

A

Within the cell nucleus

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15
Q

In FISH technique, denaturation of the DNA
is done by heating at

A

75°C

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16
Q

Which of the following structural
chromosomal abnormalities also serves as
repair mechanism in the presence of
chromosomal damage?

A

Ring formation

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17
Q

Which of the following karyotypes is a
Robertsonian translocation type of Down
syndrome?

A

46,XX,der(14;21)q10;q10)+21

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18
Q

Which of the following karyotype is an
example of terminal deletion?

A

46,XX,del(8)(p24.5)

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19
Q

In array-based CGH, what sample is added
to the DNA chip?

A

cDNA

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20
Q

If an ovum is fertilized by one sperm, what
will be the karyotype of the zygote?

A

46,XX

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21
Q

Match the reagent with its corresponding use
in preparing a karyogram.

Used to swell the cells and allow the
chromosomes to separate within the cell

A

0.075 M KCl

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22
Q

Stain used in R-banding

A

Giemsa

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23
Q

Removes lipids and water molecules and
denature proteins

A

Carnoy’s fixative

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24
Q

Arrests mitosis at metaphase

A

colcemid

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25
Q

Induces lymphocytes to divide

A

Phytohemagglutinin

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26
Q

An IVF technique known as mitochondrial
donation or mitochondrial replacement
therapy (MRT) results in offspring
containing mtDNA from a donor female,
and nuclear DNA from the mother and
father. In this method, the nucleus of an egg
is inserted into the cytoplasm of an egg from
a donor female which has had ONLY its
nucleus removed. The child in this case will
inherit whose mitochondrial DNA?

A

donor female

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27
Q

Which of the following is true of acrocentric
chromosomes?

A

The short arms are called satellites

28
Q

Though, the genes of nuclear chromosomes
have a significant and key role in the
inheritance of almost all traits from
generations to generations, they altogether
cannot be considered as the sole vehicles of
inheritance.

A

True

29
Q

Which of the following karyotypes shows
the presence of mosaicism?

A

46, XY/47,XY,+21

30
Q

Which of the following karyotypes show a
pericentric inversion?

A

46,XY,inv(7)(p21.1q25.3)

31
Q

Which chromosome abnormality is LEAST
likely detected by SKY?

A

Inversion of a segment of a chromosome

32
Q

If a heteroplasmic cell of a child comprises
95% mutant mitochondrial DNA, and the
mutated genes give rise to a disease, the
child will develop the mild form of the
disease

A

false

33
Q

Which of the following is true of a chimera?

A

two cell population from two different
zygotes

34
Q

Autosomes are the same in both males and
females. Both male (sperm) and female
(oocytes) gametes contain one copy of each
autosome.

A

True

35
Q

Mutations in Mitochondrial DNA are
inherited through the maternal line (from
your mother).

A

True

36
Q

How many percent (%) of the zygotes
formed by fertilization of an egg by a
normal gamete, if nondysjunction occurred
during meiosis I, will be trisomic?

A

50

37
Q

Which of the following chromosomal
abnormalities result from a break in both
arms of the chromosome?

A

-Ring chromosome
-Pericentric inversion

38
Q

This karyotype, 45,X, is a form of which of
the following numerical chromosomal
abnormalities?

A

Aneuploidy

39
Q

One definitive indication that a trait is
inherited as autosomal, and not X-linked, is
that an affected father passes the disease to a son; this type of transmission is not possible with X-linked dominant, since males inherit their X chromosome from their mothers.

A

True

40
Q

Diseases that are inherited in an autosomal
recessive pattern require that both parents of
an affected individual carry at least one copy
of the disease allele.

A

True

41
Q

What is the term for the condition that refers
to cells that have a variable mixture of
mitochondrial DNA?

A

heteroplasmy

42
Q

In R Banding, the light bands represent

A

A-T-rich region

43
Q

Only males are affected in human Y-linked
inheritance.

A

True

44
Q

Which of the following karyotypes is
usually fatal and cause abortion?

A

69,XXY

45
Q

What is genomic imprinting?

A

changes in gene expression that occur
without changes in the DNA sequence (same
DNA, but turn on different portions of DNA
in different cells)

46
Q

Nondysjunction most frequently occurs
during which of the following phases of
development?

A

Meiosis I

47
Q

A fluorescence microscope is used in the
following EXCEPT

A

C banding technique

48
Q

When a trait is due to the presence of a
dominant allele of a gene, every person with
that allele will show the trait and only one
disease allele needs to be inherited for an
individual to be affected

A

True

49
Q

Forms of inheritance that do not follow the
typical Mendelian patterns and that appear
to be more influenced by the parent
contributing the most cytoplasm to the
embryo.

A

non-mendelian pattern

50
Q

In FISH technique, denaturation of the DNA
is done by heating at

A

75 C

51
Q

In the snail Lymnea peregra, coiling of the
shell is determined by the genes D for righthand coiled shells, and d for left-hand coiled
shells. The gene for the right-hand coiled
shell is dominant. This trait shows maternal
influence since the direction of coiling is
determined by the genotype of the maternal
parent producing the egg, regardless of the
progeny’s genotype. Which of the following
crosses could give a left-hand coiled shell
heterozygote?

A

left-hand coiled dd egg X right-hand coiled
DD sperm

52
Q

Which of the following is true of
Robertsonian translocation?

A

Result in the formation of a chromosome
with two long arms

53
Q

A 10-year-female with some phenotypic
abnormality showed the following
karyotype: 47,XX,+21 Which of the
following mechanisms is responsible for this
genetic abnormality?

A

Erroneous segregation during mitosis or
meiosis

54
Q

In R-banding, G-C-rich region of the
chromosome becomes a light band because
of

A

Heat denaturation of the A-T-region

55
Q

If a heteroplasmic cell of a child comprises
95% mutant mitochondrial DNA, and the
mutated genes give rise to a disease, this
subsequently leads to expression of the
severe form of a disease.

A

True

56
Q

Which of the following is not true of
isochromosome formation?

A

Due to longitudinal division of the
centromere

57
Q

The genes located in mitochondria and
chloroplasts are very important for proper
cellular function. The mitochondrial DNA
and other extranuclear types of DNA
replicate independently of the DNA located
in the nucleus.

A

True

58
Q

In the snail Limnaea peregra, coiling of the
shell is determined by the genes D for right-handed coiled shells, and d for left-handed coiled shells. The gene for the right-handed shell is dominant. However, the direction of coiling in any single individual is
determined by the genotype of the maternal
parent producing the egg, regardless of the
progeny’s genotype. Which of the following
uses Correct genetic terminology to describe
this trait?

A

The trait is an example of maternal
EFFECT.

59
Q

Which organelle is involved in maternal
inheritance pattern?

A

mitochondria/chloroplast

60
Q

In X-linked dominant inheritance, the gene
responsible for the disease is located on the
X-chromosome, and the allele that causes
the disease is dominant to the normal allele
in females.

A

True

61
Q

Because males have only one X-chromosome, any male that inherits an X-linked recessive disease allele will NOT be
affected by it.

A

False

62
Q

Which of the following mechanisms is
behind ring chromosome formation?

A

Sticky broken ends

63
Q

Which is used to compare mRNA
expression of reference cells and tumors?

A

aCGH

64
Q

In G-banding technique, a light band
consists of

A

euchromatin

65
Q

Robertsonian translocation usually involves
which of the following type of
chromosomes?

A

Acrocentric

66
Q

A karyogram is a visual profile of stained
chromosomes. It is created based on the
following EXCEPT:

A

type of sex chromosome

67
Q

Which of the following is NOT TRUE about
the mitochondrial genome?

A

genes are synthesized in the nucleus and
subsequently transported to the
mitochondrion

BATTERY REVIEWER - CYTOGENETICS (3 decks)

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