CYTOGENETICS - FINALS Flashcards
Which of the following testing method is
used specifically for diagnosis of cystic
fibrosis and severe combined
immunodeficiency?
Tandem spectrometry
How many percent of spontaneous abortions
occur during early pregnancy?
50-60
The mutated gene in Marfan syndrome
encodes for:
fibrillin-1
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?
4
The following disorders are expected to
manifest early in life, except:
Familial hypercholesterolemia
The incidence of fetal loss among patients
with genetic abnormalities is greatest during
which of the following phases of pregnancy?
1st trimester
1st trimester
Isoelectric focusing
Isoelectric focusing
elastin
When Francis Dalton observed the blending
of characters, he was referring to which of
the following?
-Continuous variation or quantitative traits
-Gradation in phenotypic expressions which
do fall into distinct category
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:
RA11
In Fragile X syndrome, the break or gap is
the X chromosome is due to:
Amplification of CGG sequence
Which of the following is not true about the
most common chromosomal abnormality?
There are three copies of all autosomes
Which of the following is not true about
mendelian disorders?
The disorder is caused by methylation of
the involved gene and the adjacent genes
Which of the following is true of a
syndrome?
Consist of the same set of chromosomal
abnormalities
Which of the following is true of newborn
screening?
Normal babies do not need further work up
while those who are positive for screening
should undergo confirmatory testing
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:
47,XXY
Which of the following relationships has
been established between cancer and
genetics?
Specific chromosomal rearrangements are
directly associated with tumor formation
Which of the following is true of FISH?
Detects both normal and abnormal cells
What is the reason why sex chromosomal
aneuploidies are commonly diagnosed at the
age of puberty?
Because secondary sexual characteristics
develop during puberty
An individual with Patau syndrome has an
extra copy of which chromosome?
13
Which of the following differentiate
karyotyping and FISH in their utility in
cancer genetics?
-FISH establish baseline population of leukemic
clones
-Karyotype identifies chromosomal
abnormalities
Which of the following is true of complex
multigenic disorders?
-Occurs more frequently in one gender
-Occurs among certain group of people
-One is not destined to manifest the disorder
In xeroderma pigmentosa, which is a
breakage syndrome, which of the following
types of cancers are the patients predisposed
to?
Skin
What is the most common eye manifestation
of individuals with Marfan syndrome?
Displacement of lenses
Study of single gene drug interactions refer
to which of the following?
Pharmacogenetics
What do you call the white pupillary reflex
in individuals with retinoblastoma?
Leukocoria
Which of the following disorders generally
manifest early in life?
Autosomal recessive disorders
Complex multigenic disorders are those
diseases that are due to which of the
following?
Multiple gene defects of large effects and
environmental factors
Assess if the statement is True or False: The
clinical manifestation of Fragile X syndrome
become worse with each successive
generation.
True
The intellectual disability of individuals with
Miller-Dieckersyndrome can be attributed
to:
lissencephaly
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
In many patients with Turner syndrome, the
missing chromosome is chromosome:
X
Which of the following is not an autosomal
aneuploidy?
Turner syndrome
Which of the following disorders is not due
to complex multigenic causes?
Glycogenoses
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
Genetic abnormalities is present in which of
the following individuals?
-With confirmed genetic disorder
-Seemingly normal
-With gross deform
What is the gold standard in the diagnosis of
mucoviscidosis?
DNA sequencing
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
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
Which of the clinical features below is
compatible with autosomal dominant
disorders?
Affects males and females equally
In Angelman syndrome, the deleted gene is
located on what chromosome?
Maternally-derived chromosome 15
Which of the following can be transmitted in
an autosomal recessive fashion?
Ehlers-Danlos syndrome
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
Which of the following age groups of
mothers have the highest tendency to have
cytogenetically abnormal progeny
More than 35 y/o
Which of the following is true about the
expressivity of Ehlers-Danlos syndrome?
The disorder has variable expressivity
Which of the following is a benefit of
newborn screening?
Both early diagnosis and intervention, and
reduced financial burden to the family
In individuals with deficiency of dystrophin,
which of the muscles weaken first?
Pelvic girdle muscle
Philadelphia chromosome or ABL-BCR
fusion gene is a diagnostic of which of the
following hematopoietic malignancy?
Chronic myelogenous leukemia
The aniridia in individuals with Wilms
tumor is due to deletion in:
PAX6
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
Natalia is a patient with which of the
following trisomies who survived into
adulthood?
13
Which of the following specimens is used
for prenatal cytogenetic testing is the least
invasive for the baby?
Amniotic fluid
How many percent of recognized
pregnancies end in spontaneous abortion
during the first trimester?
80
What is the most serious complication of
cystic fibrosis?
Pulmonary disease due to repeated
pulmonary infection
Which of the following is an indication for
post-natal cytogenetics?
Presence of malformation
Which among the following metabolic
disorders screened in the Philippines is
characterized by mousy urine odor?
Phenylketonuria
Cockayne syndrome is associated with
which of the following cancer formation?
Skin
Which of the following is/are the
transmission pattern of Ehlers-Danlos
syndrome?
-Autosomal recessive
-Sex-liked
-Austosomal dominant
In individuals with myopathic glycogenosis,
the common manifestation of the disease
after an exercise is:
muscle cramps
