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BATTERY REVIEWER - CYTOGENETICS > CYTOGENETICS - FINALS > Flashcards

CYTOGENETICS - FINALS Flashcards

(59 cards)

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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?

Study These Flashcards
A

Displacement of lenses

25
Study of single gene drug interactions refer to which of the following?
Pharmacogenetics
26
What do you call the white pupillary reflex in individuals with retinoblastoma?
Leukocoria
27
Which of the following disorders generally manifest early in life?
Autosomal recessive disorders
28
Complex multigenic disorders are those diseases that are due to which of the following?
Multiple gene defects of large effects and environmental factors
29
Assess if the statement is True or False: The clinical manifestation of Fragile X syndrome become worse with each successive generation.
True
30
The intellectual disability of individuals with Miller-Dieckersyndrome can be attributed to:
lissencephaly
31
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:
46,XX
32
In many patients with Turner syndrome, the missing chromosome is chromosome:
X
33
Which of the following is not an autosomal aneuploidy?
Turner syndrome
34
Which of the following disorders is not due to complex multigenic causes?
Glycogenoses
35
Which of the following is not a characteristic feature of complex, multigenic disorders?
If you carry the deleterious genes, you are destined to have the disease
36
Genetic abnormalities is present in which of the following individuals?
-With confirmed genetic disorder -Seemingly normal -With gross deform
37
What is the gold standard in the diagnosis of mucoviscidosis?
DNA sequencing
38
The genetic disorder in complex multigenic disorders exerts a dosage effect which refers to which of the following?
The greater the number of inherited deleterious genes, the more severe the disease
39
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?
Biologic elimination of recognized errors
40
Which of the clinical features below is compatible with autosomal dominant disorders?
Affects males and females equally
41
In Angelman syndrome, the deleted gene is located on what chromosome?
Maternally-derived chromosome 15
42
Which of the following can be transmitted in an autosomal recessive fashion?
Ehlers-Danlos syndrome
43
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?
STS
44
Which of the following age groups of mothers have the highest tendency to have cytogenetically abnormal progeny
More than 35 y/o
45
Which of the following is true about the expressivity of Ehlers-Danlos syndrome?
The disorder has variable expressivity
46
Which of the following is a benefit of newborn screening?
Both early diagnosis and intervention, and reduced financial burden to the family
47
In individuals with deficiency of dystrophin, which of the muscles weaken first?
Pelvic girdle muscle
48
Philadelphia chromosome or ABL-BCR fusion gene is a diagnostic of which of the following hematopoietic malignancy?
Chronic myelogenous leukemia
49
The aniridia in individuals with Wilms tumor is due to deletion in:
PAX6
50
Childhood and adult cytogenetics is one of the most difficult to clinically diagnose cytogenetic disorders and may require which of the following tests?
Both molecular and biochemical
51
Natalia is a patient with which of the following trisomies who survived into adulthood?
13
52
Which of the following specimens is used for prenatal cytogenetic testing is the least invasive for the baby?
Amniotic fluid
53
How many percent of recognized pregnancies end in spontaneous abortion during the first trimester?
80
54
What is the most serious complication of cystic fibrosis?
Pulmonary disease due to repeated pulmonary infection
55
Which of the following is an indication for post-natal cytogenetics?
Presence of malformation
56
Which among the following metabolic disorders screened in the Philippines is characterized by mousy urine odor?
Phenylketonuria
57
Cockayne syndrome is associated with which of the following cancer formation?
Skin
58
Which of the following is/are the transmission pattern of Ehlers-Danlos syndrome?
-Autosomal recessive -Sex-liked -Austosomal dominant
59
In individuals with myopathic glycogenosis, the common manifestation of the disease after an exercise is:
muscle cramps

BATTERY REVIEWER - CYTOGENETICS (3 decks)

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