CYTOGENETICS - MIDTERM Flashcards by Toni Mae Inductivo

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

With 1 normal chromosome

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

Nullisomy

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

NaOH is added to denature the DNA.

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Nondysjunction is most common during
which of the following situations?

Oogenesis in elderly female

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

Monosomic

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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.

True

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

Inversion

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Multiple probes are used in the following
EXCEPT

Q banding

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At what temperature should blood specimen
for karyotyping

Room temperature

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

mtDNA

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Alternative forms of genes are called

alleles

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Which is INCORRECT about the classical
cytogenetic technique?

It may be done on fixed tissues

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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?

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

Within the cell nucleus

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

75°C

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

Ring formation

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

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

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

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

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

cDNA

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

46,XX

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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

0.075 M KCl

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Stain used in R-banding

Giemsa

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Removes lipids and water molecules and
denature proteins

Carnoy’s fixative

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Arrests mitosis at metaphase

colcemid

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Induces lymphocytes to divide

Phytohemagglutinin

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?

donor female

Which of the following is true of acrocentric chromosomes?

The short arms are called satellites

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.

True

Which of the following karyotypes shows the presence of mosaicism?

46, XY/47,XY,+21

Which of the following karyotypes show a pericentric inversion?

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

Which chromosome abnormality is LEAST likely detected by SKY?

Inversion of a segment of a chromosome

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

false

Which of the following is true of a chimera?

two cell population from two different zygotes

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

True

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

True

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?

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

-Ring chromosome -Pericentric inversion

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

Aneuploidy

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.

True

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.

True

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

heteroplasmy

In R Banding, the light bands represent

A-T-rich region

Only males are affected in human Y-linked inheritance.

True

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

69,XXY

What is genomic imprinting?

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

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

Meiosis I

A fluorescence microscope is used in the following EXCEPT

C banding technique

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

True

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.

non-mendelian pattern

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

75 C

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?

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

Which of the following is true of Robertsonian translocation?

Result in the formation of a chromosome with two long arms

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?

Erroneous segregation during mitosis or meiosis

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

Heat denaturation of the A-T-region

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.

True

Which of the following is not true of isochromosome formation?

Due to longitudinal division of the centromere

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.

True

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?

The trait is an example of maternal EFFECT.

Which organelle is involved in maternal inheritance pattern?

mitochondria/chloroplast

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.

True

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

False

Which of the following mechanisms is behind ring chromosome formation?

Sticky broken ends

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

aCGH

In G-banding technique, a light band consists of

euchromatin

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

Acrocentric

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

type of sex chromosome

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

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