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WorksheetsCYTOGEN EXAM AND PLATINGS (FINALS REVIEWER)
Total questions: 105
Worksheet time: 53mins
What is the most common eye manifestation of individuals with Marfan syndrome?
Glaucoma
Cataract formation
Retinoblastoma
Displacement of lenses
Which of the following is true of FISH?
All of the given choices
Detects both normal and abnormal cells
Not suitable to monitor response to treatment
Provide less accurate estimate of disease involvement
What is the most serious complication of cystic fibrosis?
Salty sweat
Azoospermia
Pulmonary disease due to repeated pulmonary infection
Steatorrhea
Cockayne syndrome is associated with which of the following cancer formation?
Hematopoietic
None of these
Skin
Solid
Which of the following is not true about mendelian disorders?
The disorder is caused by methylation of the involved gene and the adjacent genes
The disorders are caused by mutation in a single gene
Genes involved may be on autosomes or sex chromosomes
Majority of the disorders are familial
What do you call the white pupillary reflex in individuals with retinoblastoma?
Cyclopia
Strabismus
Leukocoria
Ectopia lentis
Which of the following specimens is used for prenatal cytogenetic testing is the least invasive for the baby?
Chorionic villi
Umbilical cord blood
Fetal bladder aspirate
Amniotic fluid
Which of the following is not true about the most common chromosomal abnormality?
There are three copies of all autosomes
It causes mental retardation
Most of the cases are due to nondisjunction in parental meiosis
The condition is compatible with life and individuals can survive until adulthood
The intellectual disability of individuals with Miller-Diecker syndrome can be attributed to:
lissencephaly
small nose
micrognathia
craniofacial defects
When Francis Dalton observed the blending of characters, he was referring to which of the following?
The two other statements are the answers
Continuous variation or quantitative traits
Gradation in phenotypic expressions which do fall into distinct category
In Fragile X syndrome, the break or gap is the X chromosome is due to:
Deletion of the region of the chromosome
Epigenetic alteration in the region of the chromosome
Methylation in the region of the chromosome
Amplification of CGG sequence
Which of the following is true about the expressivity of Ehlers-Danlos syndrome?
The disorder has variable expressivity
None of the given choices
The disorder has uniform expressivity
The disorder has 50 percent penetrance
The incidence of fetal loss among patients with genetic abnormalities is greatest during which of the following phases of pregnancy?
2nd trimester
3rd trimester
1st trimester
Newborns
Which of the following relationships has been established between cancer and genetics?
Specific chromosomal rearrangements are directly associated with tumor formation
Indirect correlation exists between presence of various chromosomal abnormalities and therapeutic response
Genetic findings are not required in the diagnosis of most hematopoietic cancers
None of these
Which of the following disorders generally manifest early in life?
Sex linked disorders
X-linked disorders
Autosomal dominant disorders
Autosomal recessive disorders
Genetic abnormalities is present in which of the following individuals?
With confirmed genetic disorder
Seemingly normal
All of these
With gross deformities
How many percent of recognized pregnancies end in spontaneous abortion during the first trimester?
90
60
80
70
Which of the following testing method is used specifically for diagnosis of cystic fibrosis and
severe combined immunodeficiency?
Molecular techniques
Isoelectric focusing
Immunoassays
Tandem spectrometry
Study of single gene drug interactions refer to which of the following?
Pharmacogenomics
Pharmacodynamics
Pharmacogenetics
All of the given choices
In individuals with Williams syndrome, the deleted gene encodes for:
fibrillin2
Rb protein
elastin
fibrillin1
Which of the following is true of complex multigenic disorders?
Occurs more frequently in one gender
One is not destined to manifest the disorder
All of the given choices
Occurs among certain group of people
A young female adult was observed always to do selfhugging, 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:
STS
RA11
KAL1
CREBBP
What is the gold standard in the diagnosis of mucoviscidosis?
FISH
Karyotyping
DNA sequencing
RT-PCR
Assess if the statement is True or False: The clinical manifestation of Fragile X syndrome become worse with each successive generation.
False
True
Natalia is a patient with which of the following trisomies who survived into adulthood?
None of the given choices
18
13
21
In individuals with deficiency of dystrophin, which of the muscles weaken first?
Pelvic girdle muscle
Back muscles
Foot muscles
Shoulder muscles
What is the reason why sex chromosomal aneuploidies are commonly diagnosed at the age of puberty?
Because secondary sexual characteristics develop during puberty
Because test samples only become available in human bodies at puberty
Because sex chromosomes are not detectable before puberty
None of the given choices
Which of the following differentiate karyotyping and FISH in their utility in cancer genetics?
Karyotype identifies chromosomal abnormalities
The other two statements differentiate karyotyping and FISH in their utility in cancer genetics
FISH establish baseline population of leukemic clones
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/48,XXXY
46,XY/47,XXY
45,X
47,XXY
Which of the following disorders is not due to complex multigenic causes?
Glycogenoses
Hypertension
Diabetes mellitus
Coronary heart disease
Philadelphia chromosome or ABL-BCR fusion gene is a diagnostic of which of the following hematopoietic malignancy?
Chronic lymphocytic leukemia
Acute myelogenous leukemia
Chronic myelogenous leukemia
Acute lymphoblastic leukemia
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
The bigger the segment of deleterious gene involved, the more severe the disease
The bigger the segment of the involved gene in the disease, the poorer the prognosis of the
disease
The greater the number of inherited deleterious genes, the poorer the prognosis of 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?
Repair mechanism of recognized errors
Biologic elimination of recognized errors
Poor identification of genetic abnormalities
In Angelman syndrome, the deleted gene is located on what chromosome?
Paternally-derived chromosome 15
Maternally and paternally derived chromosome 15
Sex chromosomes
Maternally-derived chromosome 15
Childhood and adult cytogenetics is one of the most difficult to clinically diagnose cytogenetic
disorders and may require which of the following tests?
Neither molecular nor biochemical
Molecular
Biochemical
Both molecular and biochemical
Which of the following is a benefit of newborn screening?
Both early diagnosis and intervention, and reduced financial burden to the family
Reduced financial burden to the family
None of the given choices
Early diagnosis and intervention
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?
TRPS
KAL1
TBX1
STS
Which among the following laboratory methods for NBS is used for diagnosis of hemoglobinopathies?
Isoelectric focusing
Immunoassays
Tandem mass spectrometry
Complex multigenic disorders are those diseases that are due to which of the following?
Multiple gene defects of large effects and environmental factors
Mutation in sex chromosomes due to environmental factors
All of these
Single gene defect of large effect and environmental factors
In many patients with Turner syndrome, the missing chromosome is chromosome:
X
13
21
Y
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?
7
4
5
8
Which of the following is true of newborn screening?
Normal babies do not need further work up
Normal babies do not need further work up while those who are positive for screening should undergo confirmatory testing
.Babies positive for screening should undergo confirmatorytesting
None of the given choices
Which of the following is true of a syndrome?
Consist of the same set of chromosomal abnormalities
Observed in the same group of people
Abnormalities present of the same degree
Arise from different forms of chromosomal abnormalities
In xeroderma pigmentosa, which is a breakage syndrome, which of the following types of cancers are the patients predisposed to?
Colon
Leukemias
Lung
Skin
Which of the following age groups of mothers have the highest tendency to have cytogenetically abnormal progeny?
31-35 y/o
Less than 25 years old
More than 35 y/o
26-30 y/o
How many percent of spontaneous abortions occur during early pregnancy?
50-60
30-40
40-50
20-30
Which of the following is the environmental factor in emphysema?
Sunlight
Infection
Diet
Smoking
Which of the following is/are the transmission pattern of EhlersDanlos syndrome?
Autosomal recessive
Autosomal dominant
Any of the given choices
Sex-liked
Which of the following is not an autosomal aneuploidy?
Turner syndrome
Patau syndrome
Down syndrome
Edward syndrome
The aniridia in individuals with Wilms tumor is due to deletion in:
WT1
Rb
WT2
PAX6
Which among the following metabolic disorders screened in the Philippines is characterized by mousy urine odor?
Galactosemia
Congenital hypothyroidism
Maple syrup urine disease
Phenylketonuria
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:
45,X
46,XX
46,XY
46,XX/46XY
Which of the following can be transmitted in an autosomal recessive fashion?
Familial hypercholesterolemia
All of the given choices
Marfan syndrome
Ehlers-Danlos syndrome
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
No clear pattern of inheritance
The disorder occurs more frequently in a specific group
Environmental influence can increase or decrease the risk of the disease
An individual with Patau syndrome has an extra copy of which chromosome?
18
13
7
21
Which of the clinical features below is compatible with autosomal dominant disorders?
Has uniform expression
Expressed only in males
The disorders have complete penetrance
Affect s males and females equally
Which of the following is an indication for post-natal cytogenetics?
Suspected sex chromosomal abnormality
Presence of malformation
Presence of age-related risk
Unexplained mental retardation
The following disorders are expected to manifest early in life, except:
Familial hypercholesterolemia
Glycogenosis
Lysosomal storage disease
Mucopolysaccharidoses
The mutated gene in Marfan syndrome encodes for:
collagen
trophoelastin
fibrin
fibrillin-1
In individuals with myopathic glycogenosis, the common manifestation of the disease after an exercise is:
None of the given choices
muscle cramps
muscle pain
muscle cell death
The following features are seen in Klinefelter syndrome, except:
shield chest
low IQ
atrophic testes
gynecomastia
Which statement is not true about 47,XYY males?
Often undiagnosed throughout one’s lifetime
They are tall
They are infertile
They have normal children
A newborn with Patau syndrome has three copies of which chromosome?
18
21
X
13
The development of male characteristics is primarily controlled by genes located on:
Y chromosome
X chromosome
chromosome 18
chromosome 21
XY females have this gonad:
ovary
testis
A newborn has one eye with cleft lip, simiam crease, rocker-bottom feet and extra hand digits. This newborn has:
three copies of chromosome 21
one copy of chromosome X
three copies of chromosome 13
three copies of chromosome 18
Which of the autosomal aneuploidies can have a lifespan that can reach adulthood?
Edward dynrome
Down syndrome
Patau syndrome
Turner syndrome
Which of the following is the most common cause of Down syndrome?
Nondysjunction in parental meiosis
Mosaicism
Isochromosome formation
Robertsonian translocation
Which of the sex chromosomal aneuploidies is associated with autoantibody formation, glucose intolerance and obesity?
Turner syndrome
Polysomic X
47,XXX females
Klinefelter syndrome
Assess if the statement is True or False: In sex chromosomal aneuploidies, the more X chromosome one has, the higher is the possibility of mental retardation.
True
False
Why is it easier for physicians to diagnose sex chromosomal aneuploidies during puberty?
Because that is the age when secondary sexual characteristics develop
Because most individuals do not have clinical manifestation
Because of the mild clinical manifestations and require years of observation
Because karyotyping can only be done at that age
A true hermaphrodite has which of the following gonads?
ovary
ovary and testis
testis
None of the given choices
The most common error that leads to Turner syndrome is:
paternal meiotic nondisjunction
maternal meiotic nondisjunction
mosaicism
translocation
The most common chromosomal abnormality has which of the following karyotyping finding?
Three copies of all chromosomes
Female with one copy of chromosome X
Three copies of chromosome 18
Three copies of chromosome 21
This is the most common karyotype of individuals with Klinefelter syndrome:
47,XXY/48,XXXY
45,X
47,XXY
46,XY/47,XXY
Assess if the statement is TRUE or FALSE: The presence of aniridia and genitourinary defects in individuals with Wilms tumor due to WT1 deletion and the adjacent genes is known as contiguous gene syndrome.
True
False
Assess if the statement is TRUE or FALSE: An individual with Smith-Magenis syndrome typically presents with self hug and lick and flip behavior.
True
False
A 21 year old who is hypertensive has blue eyes, prominent lips, hoarseness of voice and cardiac problem such as aortic stenosis. The gene that is deleted in this case encodes for:
myosin
elastin
fibrillin
collagen
A 20 year old individual with cridu-chat can only interact like:
a 10 year old
an adult
a 5 or 6 year old
a 15 year old
A 3 year old with retinoblastoma presents with white reflection from retina of the eye. This patient is in what stage of the disease?
Recurrence
Extra-occular
Leukocoria
Glaucomatous
Assess if the statement is TRUE or FALSE: Smith-Magenis syndrome is an inherited disorder.
False
True
This individual has terminal deletion of the short arm of chromosome 4. He or she has:
Greek warriors facial helmet appearance
cat-like cry during infancy
happy puppet behavior
Individuals who are described as happy puppet due to inappropriate laughter, with mental retardation and microcephaly, have:
Maternal imprinting and paternal deletion on chromosome 15
none of the provided answer
Paternal imprinting and maternal deletion on chromosome 15
Change in the sequence of genes on both alleles on chromosome 15
Assess if the statement is TRUE or FALSE: Majority of individuals with eye tumor due to deletion of Rb gene are diagnosed before the age of 5.
True
False
An infant has high-pitched cry with microcephaly, hypertelorism and cardiac anomalies. The chromosome that will appear shorter in karyotyping this case is:
chromosome 6
chromosome 7
chromosome 5
chromosome 4
Which of the following will present with scaly skin?
Velocardiofacial syndrome
Kallman syndrome
Ichthyosis
Digeorge syndrome
Which of the following is considered a microdeletion syndrome?
Wolf-Hirschhorn syndrome
WAGR syndrome
5p syndrome
Velocardiofacial syndrome
Assess if the statement is TRUE or FALSE: The clinical manifestations of individuals with WAGR syndrome depends on the size or extent of the deletion.
True
False
Assess if the statement is TRUE or FALSE: In individuals with Miller-Dieker syndrome, the metal
retardation is associated with:
small nose
micrognathia
cranio-facial anomalies
lissencephaly
The deleted gene in individuals with retinoblastoma is located on chromosome:
5
4
14
13
Assess if the statement is True or False: Complete penetrance is common in autosomal recessive mendelian disorders.
False
True
Ehlers-Danlos can be inherited through which of the following
autosomal dominant
Any of the given choices
autosomal recessive
sex-linked
In Ehlers-Danlos syndrome, the tissues that are typically affected include:
ligaments
joints
skin
All of the given choices
The following are autosomal recessive disorders, except:
Mucopolysaccharidoses
Cystic fibrosis
Glycogenosis
Marfan syndrome
Assess if the statement is True or False: In glycogenosis, the deficient enzyme dictates the organ of involvement and manifestation of the patient.
True
False
Which of the following clinical manifestations can be seen in individuals with Marfan syndrome?
Muscle cramps
Mental retardation
Salty sweat
Ectopia lentes
In fragile X syndrome, the phenomenon of having mental retardation for being a brother of a transmitting male is known as:
None of the given choices
Anticipation
Sherman paradox
Transmitting male
Assess if the statement is True or False: Only individuals with clinical manifestations of mendelian disorders are with genetic mutation involving a single gene.
False
True
What is the gold standard in the diagnosis of mucoviscidosis?
G-banding
DNA sequencing
Karyotyping
FISH
Which of the following is not true about Becker muscular dystrophy?
The onset of the manifestations is during late childhood or adolescence
The synthesized dystrophin proteins are abnormal and smaller
There is decreased production of dystrophin
Heart problem causes death in majority of the patients in the second decade of life
Which of the following is not true about mendelian disorders?
These are single gene disorders but with large effects
The disoders involve only a single gene
Majority of the cases are familial
There is only one pattern of inheritance in mendelian disoders
In myopathic form of glycogenosis, the muscle weakness is due to:
excessive ATP production
All of the given choices
excessive lactate production and accumulation in the blood
failure in ATP production
The gap in karyotyping involving the X chromosome in Fragile X syndrome is due to:
epigenetic alteration specifically methylation of the region
amplification of a trinucleotide sequence
translocation of the region to Y chromosome
deletion of contiguous regions on the chromosome
These disorders manifest even in heterozygous state and affects males and females equally:
autosomal dominant disorders
sex-linked disorders
X-linked disorders
autosomal recessive disorders
The mutated gene in Duchene muscular dystrophy is located on:
X chromosome
chromosome 2
Y chromosome
chromosome 21
