Genetics exam 2021
Familial aggregation of cancers is characteristic for the following inheritance pattern
Monogenic dominant with high penetrance
Monogenic dominant with low penetrance
Monogenic recessive with high penetrance
Monogenic recessive with low penetrance
Polygenic
HNPCC susp can be diagnosed if: 46 year old man is diagnosed with colorectal cancer and among his relatives have been reported cancer of:
Uterus in grandmother
Small bowel in grandfather
Ovaries in younger sister
Stomach in father
Breast in older sister
Features characteristic for FAP include:
Polyposis and retinopathy
Retinopathy and desmoids
Desmoids and congenital hypertrophy of the retinal pigment epithelium
Bone cysts of maxilla and fibromas
Fibromas and desmoids
Sensitivity of mammography in detection of early breast cancer among BRCA1 carriers is around:
95%
75%
60%
40%
20%
Features lowering the risk of ovarian cancer among BRCA1 carriers:
Contraceptives at age <20 and low blood As level
Contraceptives at age >40 and low blood As level
High blood As level and tubal ligation
High blood As level and delayed menstruation
Tubal ligation and preventative mastectomy
10-year survival among breast cancer patients with BRCA1 mutation treated with cis platinum efficiently with pathologic complete remission after neoadjuvant chemotherapy is:
95%
80%
70%
60%
50%
Mortality because of colorectal cancer among MSH2 carriers from HNPCC families following program of colonoscopy every 2 years beginning at age of 25.years is around:
1%
10%
25%
50%
75%
Preventative adnexectomy should be considered among carriers of mutations in genes:
Rb1 and VHL
VHL and MSH2
MSH2 and MLH1
MLH1 and APC
APC and BRCA1
Disorders with mental retardation as a main feature are:
Duchenne muscular dystrophy
Anemia
Down syndrome
Meningitis
Pertussis
Choose major abnormalities:
Flat philtrum
Clinodactyly
Cleft palate
Clenched fingers
2-3 syndactyly of toes
Which genes should be genotyped in a patient with 7 large café-au-lait spots, freckling of a groin and Lisch nodules:
MLH1, MSH2
BRCA1, BRCA2
NF1, NF2
CHEK2, PALB2
RB1, VHL1
A patient (46, XY) with MIF (AMH) mutation is:
Male appearance with female genitals
Female appearance with undifferentiated genitals
Male appearance with pseudohermaphroditism
Normal male
Generally fertile
A 16-year old girl was presented with primary amenorrhoea and lack of pubarche and axillarche with normal thelarche. Absence of uterus and cervix was found in USG. What is true:
Turner syndrome suspected
Complete androgen insensitivity syndrome suspected
Possible karyotype 46, XX
Possible karyotype 47, XX + 18
Fertility can be achieved
What examination is usually ordered to diagnose lung cancer?*
X-ray
CT scan
Estimation of micronutrients levels
Biopsy
Bronchoscopy
Which type of Mendel mode of inheritance has the greatest number of metabolic diseases:
Autosomal dominant
Autosomal recessive
X-linked dominant
Y-linked dominant
X-linked recessive
Which type of genetic disease can be identified from this picture:
Turner syndrome
Downs syndrome
Edward syndrome
This patient is healthy
Klinefelter syndrome
What proportion of consecutive breast cancer patients with BRCA1 mutation has negative breast/ovarian cancer family history:
10%
40%
20%
30%
70%
Which medical tests should be performed in an individual with angiofibromas on the face, ash-leaf macule and soft tissue nevus:
MRI of brain
Colonoscopy
USG of thyroid gland
CT of lungs
Bronchoscopy
Deletion of two last exons in EPCAM gene is correlated with:
Lynch syndrome
FAP
Chron´syndrome
Peutz-Jeghers syndrome
Muire-Torr syndrome
Is it true that: **
CHRPE (congential hypertrophy of retinal epithelium) is characteristic for....
Mean age of CRC in Lynch syndrome is 34-40
Mean age of CRC in FAP syndrome is over 50
In HNPCC, colonoscopy should be performed from the age 25 every 5 years
Low does of aspirin should be considered as pharmacological CRC predominantly in HNPCC
Molecular technique MLPA: *
Allows to detect big rearrangements in genes
Allows to detect point mutations
Allows to detect balanced translocations
Allows to detect chromosome abberations
Is used to detect Patau syndrome
Presented below pedigree is an example of what kind of inheritance:
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Maternal (mitochondrial)
Presented below pedigree is an example of:
Hereditary ovarian cancer
Hereditary breast-ovarian cancer
Hereditary breast cancer
Li-Fraumeni syndrome
Lynch syndrome
Hereditary breast cancer may be suspected
If breast cancer is diagnosed in mother in age 75
If breast cancer diagnosed in 49 year old sisters is medullary type
If breast cancer diagnosed in mother is triple positive
If breast cancer is diagnosed in adopted daughter
If breast cancer is diagnosed in mother in age 50 and lung cancer in her sister
This diagram represents
A model of inheritance of Huntington disease
Model of inheritance of Edwards syndrome
Model of autosomal recessive inheritance
Model of autosomal dominant inheritance
Model of x-linked recessive inheritance
Select the correct sentence
Gaucher disease are characterized by a very low height, grotesque facial features, .... Deformities, joint contractures
Parents-heterozygotes regarding allele of recessive disorder have 70% chance of having affected child
Distorted red cells which occlude vessels occurs in albinism
Pink red skin which fails to tan, white hair, blue or pink irises are characteristic for hemochromatosis
Autosomal recessive disorders expressed in recessive homozygotes
37-year old Joanne was diagnosed with Huntigton disease. She wants to test her 9- year old son Fred because she is scared he might also be at risk of getting HD. You inform her that:
Since Joanne is his legal guardian she can decide now to test her son for HD
As HD is early onset disease, Fred testing at this stage should be carried out
Respecting Fred’s right to decide whether he wants to know or not, the choice will be left to Fred when he is legally competent (>18 years)
She should test her son as it is beneficial for his health
It is obligatory to perform predictive testing
What are the indications to perform karyotyping
Recurrent natural abortions or infertility
Familial clustering of colorectal cancers
Diagnosing of viral infections
Breast cancer diagnosed in mother in age 35
Cancer familial aggregation in family
Albinism, lack of pigmentation in humans, results from an autosomal recessive gene. Two parents with normal pigmentation have an albino child. What is the probability that their next child will be albino?
50%
25%
75%
100%
1%
Which technique should be chosen if you have to sequence at least 25 genes responsible for hereditary cancer syndromes:
MLPA
Sanger sequencing
Real-time PCR
Next generation sequencing (NGS)
It’s impossible with one technique
Mark true sentence:
Edwards syndrome is referred as 45, X0
Down syndrome is referred as trisomy 20
Turner syndrome is referred as trisomy 18
Klinefelter syndrome is referred as 47, XXY
Patau syndrome is referred as monosomy 13
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