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BATTERY REVIEWER - CYTOGENETICS > CYTOGENETICS - FINALS > Flashcards

CYTOGENETICS - FINALS Flashcards

1
Q

Which of the following testing method is
used specifically for diagnosis of cystic
fibrosis and severe combined
immunodeficiency?

A

Tandem spectrometry

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2
Q

How many percent of spontaneous abortions
occur during early pregnancy?

A

50-60

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3
Q

The mutated gene in Marfan syndrome
encodes for:

A

fibrillin-1

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4
Q

A 3 year old male has small head and Greek
warrior’s facial helmet appearance due to
frontal bossing, prominent glabella, arched
eyebrows, hypertelorism (wide-spaced
eyes), and long beaked nose. The terminal
deletion in this case can be detected on
which chromosome?

A

4

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5
Q

The following disorders are expected to
manifest early in life, except:

A

Familial hypercholesterolemia

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6
Q

The incidence of fetal loss among patients
with genetic abnormalities is greatest during
which of the following phases of pregnancy?

A

1st trimester

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7
Q

1st trimester

A

Isoelectric focusing

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8
Q

Isoelectric focusing

A

elastin

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9
Q

When Francis Dalton observed the blending
of characters, he was referring to which of
the following?

A

-Continuous variation or quantitative traits
-Gradation in phenotypic expressions which
do fall into distinct category

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10
Q

A young female adult was observed to
always do self-hugging, licking of fingers
and flipping pages of reading materials. She
has broad, square-shaped face, full cheeks,
deep-set eyes and a prominent lower jaw.
The deleted gene in her case is:

A

RA11

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11
Q

In Fragile X syndrome, the break or gap is
the X chromosome is due to:

A

Amplification of CGG sequence

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12
Q

Which of the following is not true about the
most common chromosomal abnormality?

A

There are three copies of all autosomes

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13
Q

Which of the following is not true about
mendelian disorders?

A

The disorder is caused by methylation of
the involved gene and the adjacent genes

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14
Q

Which of the following is true of a
syndrome?

A

Consist of the same set of chromosomal
abnormalities

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15
Q

Which of the following is true of newborn
screening?

A

Normal babies do not need further work up
while those who are positive for screening
should undergo confirmatory testing

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16
Q

A 15 year old has eunuchoid body habitus,
small testis, small penis, gynecomastia and
low IQ. Majority of individuals with such
condition has this karyotype:

A

47,XXY

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17
Q

Which of the following relationships has
been established between cancer and
genetics?

A

Specific chromosomal rearrangements are
directly associated with tumor formation

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18
Q

Which of the following is true of FISH?

A

Detects both normal and abnormal cells

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19
Q

What is the reason why sex chromosomal
aneuploidies are commonly diagnosed at the
age of puberty?

A

Because secondary sexual characteristics
develop during puberty

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20
Q

An individual with Patau syndrome has an
extra copy of which chromosome?

A

13

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21
Q

Which of the following differentiate
karyotyping and FISH in their utility in
cancer genetics?

A

-FISH establish baseline population of leukemic
clones
-Karyotype identifies chromosomal
abnormalities

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22
Q

Which of the following is true of complex
multigenic disorders?

A

-Occurs more frequently in one gender
-Occurs among certain group of people
-One is not destined to manifest the disorder

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23
Q

In xeroderma pigmentosa, which is a
breakage syndrome, which of the following
types of cancers are the patients predisposed
to?

A

Skin

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24
Q

What is the most common eye manifestation
of individuals with Marfan syndrome?

A

Displacement of lenses

25
Q

Study of single gene drug interactions refer
to which of the following?

A

Pharmacogenetics

26
Q

What do you call the white pupillary reflex
in individuals with retinoblastoma?

A

Leukocoria

27
Q

Which of the following disorders generally
manifest early in life?

A

Autosomal recessive disorders

28
Q

Complex multigenic disorders are those
diseases that are due to which of the
following?

A

Multiple gene defects of large effects and
environmental factors

29
Q

Assess if the statement is True or False: The
clinical manifestation of Fragile X syndrome
become worse with each successive
generation.

A

True

30
Q

The intellectual disability of individuals with
Miller-Dieckersyndrome can be attributed
to:

A

lissencephaly

31
Q

An autopsy was done to a body of a 15 year
old and it was found out that the gonads are
ovotestes. The most common karyotype of
individuals with such condition is:

A

46,XX

32
Q

In many patients with Turner syndrome, the
missing chromosome is chromosome:

A

X

33
Q

Which of the following is not an autosomal
aneuploidy?

A

Turner syndrome

34
Q

Which of the following disorders is not due
to complex multigenic causes?

A

Glycogenoses

35
Q

Which of the following is not a
characteristic feature of complex, multigenic
disorders?

A

If you carry the deleterious genes, you are
destined to have the disease

36
Q

Genetic abnormalities is present in which of
the following individuals?

A

-With confirmed genetic disorder
-Seemingly normal
-With gross deform

37
Q

What is the gold standard in the diagnosis of
mucoviscidosis?

A

DNA sequencing

38
Q

The genetic disorder in complex multigenic
disorders exerts a dosage effect which refers
to which of the following?

A

The greater the number of inherited
deleterious genes, the more severe the
disease

39
Q

Although chromosomal abnormalities are
present in 1:3 conceptuses, only 6:1000
livebirths manifest the disorder. Which of
the following explains this low incidence at
birth?

A

Biologic elimination of recognized errors

40
Q

Which of the clinical features below is
compatible with autosomal dominant
disorders?

A

Affects males and females equally

41
Q

In Angelman syndrome, the deleted gene is
located on what chromosome?

A

Maternally-derived chromosome 15

42
Q

Which of the following can be transmitted in
an autosomal recessive fashion?

A

Ehlers-Danlos syndrome

43
Q

A 10 year old male has dry, thickened, scaly
or flaky skin since birth. His skin sometimes
appear as like having scales of a fish. What
gene on chromosome X is deleted in this
case?

A

STS

44
Q

Which of the following age groups of
mothers have the highest tendency to have
cytogenetically abnormal progeny

A

More than 35 y/o

45
Q

Which of the following is true about the
expressivity of Ehlers-Danlos syndrome?

A

The disorder has variable expressivity

46
Q

Which of the following is a benefit of
newborn screening?

A

Both early diagnosis and intervention, and
reduced financial burden to the family

47
Q

In individuals with deficiency of dystrophin,
which of the muscles weaken first?

A

Pelvic girdle muscle

48
Q

Philadelphia chromosome or ABL-BCR
fusion gene is a diagnostic of which of the
following hematopoietic malignancy?

A

Chronic myelogenous leukemia

49
Q

The aniridia in individuals with Wilms
tumor is due to deletion in:

A

PAX6

50
Q

Childhood and adult cytogenetics is one of
the most difficult to clinically diagnose
cytogenetic disorders and may require which
of the following tests?

A

Both molecular and biochemical

51
Q

Natalia is a patient with which of the
following trisomies who survived into
adulthood?

A

13

52
Q

Which of the following specimens is used
for prenatal cytogenetic testing is the least
invasive for the baby?

A

Amniotic fluid

53
Q

How many percent of recognized
pregnancies end in spontaneous abortion
during the first trimester?

A

80

54
Q

What is the most serious complication of
cystic fibrosis?

A

Pulmonary disease due to repeated
pulmonary infection

55
Q

Which of the following is an indication for
post-natal cytogenetics?

A

Presence of malformation

56
Q

Which among the following metabolic
disorders screened in the Philippines is
characterized by mousy urine odor?

A

Phenylketonuria

57
Q

Cockayne syndrome is associated with
which of the following cancer formation?

A

Skin

58
Q

Which of the following is/are the
transmission pattern of Ehlers-Danlos
syndrome?

A

-Autosomal recessive
-Sex-liked
-Austosomal dominant

59
Q

In individuals with myopathic glycogenosis,
the common manifestation of the disease
after an exercise is:

A

muscle cramps

BATTERY REVIEWER - CYTOGENETICS (3 decks)

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