CLINICAL APPLICATIONS

Question 1

It is the application of cytogenetics to clinical settings

Answer 1

Clinical Cytogenetics

Question 2

True or False:
Cytogenetics abnormalities may be found in normal individuals (who looks normal phenotypically)

Answer 2

True

Question 3

True or False:
Cytogenetic abnormalities may be found on patients with phenotypic anomalies (e.g., cleft palate)

Answer 3

True

Question 4

True or False:
Cytogenetic abnormalities may be found on patients with diagnosed genetic disorders

Answer 4

True

Question 5

True or False:
Diagnosis of cytogenetic disorders may be made at any stage of life

Answer 5

True

Question 6

It is a stage wherein genetic abnormalities are diagnosed before birth.

Answer 6

Prenatal cytogenetics

Question 7

True or False:
In prenatal cytogenetics, baby in the womb of the mother can be diagnosed with cytogenetics abnormalities

Answer 7

True

Question 8

In this stage the baby is born and you may seek evidence for cytogenetic abnormalities

Answer 8

Postnatal cytogenetics

Question 9

At this stage, babies are born seemingly normal but later in life they would manifest some genetic abnormalities; developmental, physical, or mental disabilities will manifest during adulthood

Answer 9

Childhood and adult cytogenetics

Question 10

It is established if the same set of features are seen in several unrelated individuals; assumed to
have a common basis of specific chromosomal abnormalities but may occur in different degrees

Answer 10

Syndrome

Question 11

These are usually caused by a common/single-specific chromosomal abnormality

Answer 11

Syndrome

Question 12

In this stage, 50% - 60% of spontaneous abortions during early months of pregnancy have a demonstrable chromosomal abnormality and 52% of which are autosomal trisomies.

Answer 12

Prenatal cytogenetics

Question 13

1:3 conceptuses (embryo in the uterus) have chromosomal abnormality but seen only in 6:1000
live births due to biological elimination of recognized errors

Answer 13

Prenatal cytogenetics

Question 14

Rate of biological elimination of Monosomy X (Turner’s Syndrome)

Answer 14

95%

Question 15

Rate of biological elimination of Trisomy 13 (Patau Syndrome)

Answer 15

90%

Question 16

Rate of biological elimination of Trisomy 18 (Edwards Syndrome)

Answer 16

80%

Question 17

Rate of biological elimination of Trisomy 21 (Down Syndrome)

Answer 17

65%

Question 18

True or False:
As the number of chromosomes
goes higher the chances of being born alive is greater.

Answer 18

True

Question 19

It is the most common chromosomal error in spontaneous losses

Answer 19

45, X (Monosomy X - Turner’s Syndrome)

Question 20

It is the most common trisomy seen in abortus

Answer 20

Trisomy 16

Question 21

This analysis should be done if a woman is suspected to be at an increased risk of having an abnormal child

Answer 21

Prenatal chromosome analysis

Question 22

3 methods to obtain cells from prenatal chromosomal analysis

Answer 22

1. Amniocentesis
2. On chorionic villus biopsy
3. On umbilical cord blood

Question 23

True or False:
Screening for maternal age-related risk is an indications for prenatal cytogenetics

Answer 23

True

Question 24

True or False:
Family history of or previous child with chromosomal abnormality might be an indication for prenatal cytogenetics

Answer 24

True

Question 25

True or False: Abnormal levels of AFP (alpha fetoprotein) in a screening test is an indication for prenatal cytogenetics

Answer 25

True

Question 26

It is a fetal protein that is usually associated with neural tube defect

Answer 26

Alpha fetoprotein

Question 27

True or False: Fetal abnormality detected on ultrasound is an indication of prenatal cytogenetics

Answer 27

True

Question 28

A parent who is a carrier of unbalanced gametes and A parent who is a carrier of X-linked genetic disorder is an indication of prenatal cytogenetics

Answer 28

True

Question 29

It is a type of neural tube defects that is completely open brain and spinal cord

Answer 29

Craniorachischisis

Question 30

It is a type of neural tube defects that is open brain and lack of skull vault

Answer 30

Anencephaly

Question 31

It is a type of neural tube defects that has herniation of the meninges and brain

Answer 31

Encephalocele

Question 32

It is a type of neural tube defects that has occipital skull and spine defects with extreme retroflexion of the head

Answer 32

Iniencephaly

Question 33

It is a type of neural tube defects that has closed asymptomatic neural tube defect in which some of the vertebrae are not completely close

Answer 33

Spina bifida occulata

Question 34

It is a type of neural tube defects that has deficiency of at least two vertebral arches

Answer 34

Closed spinal dysraphism

Question 35

It is a type of neural tube defects that has protrusion of the meninges filled with CSF, through a defect in the skull or spine

Answer 35

Meningocele

Question 36

It is a type of neural tube defects that has open spinal cord with a meningeal cysts

Answer 36

Myelomeningocele

Question 37

This analysis is used on both biological parents to differentiate between an inherited rearrangement and a "de novo" anomaly in the child

Answer 37

Karyotype analysis

Question 38

In this stage, Approximately 0.6% - 1.0% of all newborns have a gross chromosomal abnormality

Answer 38

Postnatal cytogenetics

Question 39

If a newborn infant presents with manifestations of a syndrome, a karyotype analysis is needed to?

Answer 39

1. Confirm diagnosis 2. Substantiate a diagnosis 3. Provide information related to clinical findings

Question 40

True or False Presence of multiple congenital anomalies is an indication of postnatal cytogenetics

Answer 40

True

Question 41

True or False Suspected aneuploidy and childhood and adult cytogenetics are indications of postnatal cytogenetics

Answer 41

True

Question 42

Indications for adults and childhood cytogenetics in postnatal a. Unexplained mental retardation or developmental delay b. Suspected aneuploidy c. Presence of multiple congenital anomalies

Answer 42

a. Unexplained mental retardation or developmental delay

Question 43

True or False: - Suspected unbalanced autosome - Suspected sex chromosomal abnormality - Suspected fragile X syndrome are indication of postnatal cytogenetics for adults and childhood

Answer 43

True

Question 44

True or False: Multiple spontaneous abortions is an indication of postnatal cytogenetics for adults and childhood

Answer 44

True

Question 45

This syndrome has an insatiable appetite caused by a defect in the hypothalamus that causes the person to never actually feel full

Answer 45

Prader-Willi Syndrome

Question 46

It is a direct correlation between the presence of various chromosomal abnormalities and patient’s response to treatment

Answer 46

Cancer genetics

Question 47

These are usually caused by genetic mutations

Answer 47

Cancer genetics

Question 48

is directly associated with certain chromosomal abnormalities, and are usually best appreciated in patients with leukemia

Answer 48

Tumorigenesis

Question 49

Indications for cancer cytogenetics

Answer 49

1. Confirm a clinical diagnosis 2. Monitor disease progression - relapse and disease progression 3. Monitor patients' response to therapy

Question 50

It is a valuable tool in clinical oncology wherein we label the antibodies that is used against the antigen with fluorescent dye

Answer 50

FISH (fluorescent in situ hybridization)

Question 51

It is wherein a patient no longer has evidence of cells with the chromosomal abnormalities

Answer 51

Cytogenetic remission

Question 52

It is a translocation wherein you have two chromosomes that has one break on each arm where exchange of genetic information happens

Answer 52

Balanced-reciprocal translocation

Question 53

It is a translocation wherein the two long arms broke with the centromere, and then joined together, the two long arms joined together and the two short arm also joined together

Answer 53

Robertsonian translocation

Question 54

signals occur if the translocation results in separation of two probes generating two-different colored signals in place of the original single-color signal

Answer 54

Splitting

Question 55

signals occur in the translocation results in relocation of two different probes into proximity causing generation of a new color

Answer 55

Fusion

Question 56

Translocation are seen in?

Answer 56

1. chronic myeloid leukemia 2. acute myeloid leukemia 3. acute lymphoblastic leukemia

Question 57

This method is used for the ABL locus on chromosome 9

Answer 57

red

Question 58

this method is used for the BC locus on chromosome 22

Answer 58

green

Question 59

This signal will be formed with fusion of green and red signals

Answer 59

yellow signal

Question 60

Probe: Chromosome 7 Chromosomal Abnormality: ? Use/ Disease: ?

Answer 60

Chromosomal Abnormality: Trisomy 7 Use/ Disease: MDS and AML

Question 61

Probe: Chromosome 8 Chromosomal Abnormality: ? Use/ Disease: ?

Answer 61

Chromosomal Abnormality: Trisomy 8 Use/ Disease: acute & chronic disorders

Question 62

Probe: Chromosome 12 - specific centromere Chromosomal Abnormality: ? Use/ Disease: ?

Answer 62

Chromosomal Abnormality: Trisomy 12 Use/ Disease: CLL

Question 63

Probe: X and Y probes Chromosomal Abnormality: ? Use/ Disease: ?

Answer 63

Chromosomal Abnormality: For BM (Bone Marrow) transplantation of M from F Patient: male Donor: female Use/ Disease: Monitor Success, monitor treatment

Question 64

patient who undergoes this transplantation usually first undergo BM radiation in order to destroy malignant cells that are present in the bone marrow

Answer 64

BM transplantation

Question 65

How will you know if the BM transplantation is syccessful?

Answer 65

There is no XY chromosome

Question 66

It detects all nucleated cells both normal and abnormal, thus provide a more accurate estimate of disease involvement within the total population

Answer 66

FISH (Fluorescent in situ hybridization)

Question 67

This can be used to monitor response to treatment with decreasing disease cell population

Answer 67

Testing sequential sample

Question 68

This can only be performed on dividing cells, since cancer cells are continuously dividing, analysis will usually show 100% abnormal cells

Answer 68

Karyotyping

Question 69

True or False: The karyotype will identify the chromosomal abnormalities while the FISH will establish the baseline frequency of leukemic clones which can be used as reference point for all of the patients’ future testing

Answer 69

True

Question 70

Which of the following is true of a syndrome? a) Consist of the same group of chromosomal abnormalities b) Abnormalities present in the same degree c) Observed in the same group of people d) Arise from different forms of chromosomal abnormalities

Answer 70

A

Question 71

Genetic abnormalities is NOT seen in which of the following individuals? a) Seemingly normal b) With gross deformities c) With confirmed genetic disorder d) None of these

Answer 71

D

Question 72

Although chromosomal abnormalities are present in 1:3 conceptus, only 6:1000 livebirths manifest the disorder. Which of the following explains this low incidence at birth? a) Repair mechanism of recognized errors b) Biologic elimination of recognized errors c) Poor identification of genetic abnormalities d) Low interest on genetic abnormalities

Answer 72

B

Question 73

Which of the following is the most common chromosomal abnormalities seen in spontaneous abortion? a) 47, XY, +13 b) 47, XY, +18 c) 47, XY, +21 d) 45, X

Answer 73

D

Question 74

Which of the following specimens is not used for prenatal cytogenetic testing? a) Umbilical cord blood b) Chorionic villi c) Amniotic fluid d) Fetal bladder aspirate

Answer 74

D

Question 75

The incidence of fetal loss among patients with genetic abnormalities is greatest during which of the following phase of pregnancy? a) 1st trimester b) 2nd trimester c) 3rd trimester d) Newborns

Answer 75

A

Question 76

Which of the following groups of mothers have the highest tendency to have cytogenetically abnormal progeny? a) Less than 25 yrs old b) 26-30 yrs old c) 31-35 yrs old d) More than 35 yrs old

Answer 76

D

Question 77

Which of the following is an indication for prenatal cytogenetics? a) Presence of multiples congenital anomalies b) Unexplained mental retardation c) An abnormal level of alpha-fetoprotein (AFP) d) Suspected aneuploidy

Answer 77

C

Question 78

Which of the following relationships has not been established between cancer and genetics? a) Specific chromosomal rearrangements are directly associated with tumor formation b) Direct correlation exists between presence of various chromosomal abnormalities and therapeutic response c) Genetic findings are now required in the diagnosis of most hematopoietic cancers d) None of these

Answer 78

D

Question 79

Philadelphia chromosome or abl-bcr fusion gene is a diagnostic of which of the following hematopoietic malignancy? a) Acute myelogenous leukemia b) Acute lymphoblastic leukemia c) Chronic myelogenous leukemia d) Chronic lymphocytic leukemia

Answer 79

C