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Bilateral vestibular schwannomas are suggestive for
Indicate the malignancies that are typically seen in the spectrum of MEN2A and MEN2B syndromes
Olaparib, used in a personalized ovarian cancer therapy, induces death of cancer cells carrying
Bilateral prophylactic salpingoophorectomy should be offered to
Find TRUE statement about patients with melanoma
Somatic del(1p) and del(19q) are characteristic for
WAGR acronym stands for
Term “triple negative” breast cancer refers to:
In oncology, molecular prognostic markers allow to
EML4-ALK fusion gene is present in 3-5% of
Intrinsic resistance to targeted therapy in oncology results from
Term “genetic tumor heterogeneity” means:
DNA methylation is involved in
Turcot syndrome belongs to a group of
The term “oncogene addiction” means
To extracolonic symptoms of familial adenomatous polyposis belong
Hamartoma is
Response to monoclonal anti-EGFR therapy in colorectal cancer metastases depends on:
Bilateral, prophylactic mastectomy should be offered to
Presented pedigree meets the clinical criteria of:
The following are the most typical faciocranial defects seen in Patau syndrome:
The child with down syndrome:
Who should you refer to a clinical geneticist?
Prader-Willi syndrome is in the MAJORITY of cases caused by:
An individual with 47,XXY karyotype:
Achondroplasia is a genetic disorder with:
The following is TRUE about Smith-Lemli Opitz syndrome
The following statements concerning cystic fibrosis are true EXCEPT:
Generalized hypotonia with onset in the first two months of the life, lack of tendon flexes, severe motor disability with muscle atrophy are typical for:
Intellectual disability, tall stature, marcoorchidism, dolichocephaly, mandibular prognathism, and protruding ears are typical clinical symptoms of a disease caused by:
A woman whose son and brother have Duchenne muscular dystrophy?
Spinal muscular atrophy is characterized by the occurrence of:
Lissencephaly is common in:
Ultrasonographic features of Down syndrome in fetus are:
1. increased size of nuchal translucency
2. decreased size of nuchal translucency
3. increaded ossification of nasal bone
4. decreased ossificaltion of nasal bone
5. shortened femur
6. bifid uvula
Which diagnosis is the most probable in a 19-year-old boy with muscle weakness, difficulties in running and climbing stairs, elevated CPK serum levels and primary myopathic electromyography (EMG)?
The Barr body is formed because of:
In an individual with complete androgen insensitivity syndrome you expect the presence of:
Which of the following statements about haemophilia A is false:
Thanatophoric dysplasia:
Which tumors are specific for von hippel lindau syndrome?
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Cartes-fiches
Bilateral vestibular schwannomas are suggestive for
Indicate the malignancies that are typically seen in the spectrum of MEN2A and MEN2B syndromes
Olaparib, used in a personalized ovarian cancer therapy, induces death of cancer cells carrying
Bilateral prophylactic salpingoophorectomy should be offered to
Find TRUE statement about patients with melanoma
Somatic del(1p) and del(19q) are characteristic for
WAGR acronym stands for
Term “triple negative” breast cancer refers to:
In oncology, molecular prognostic markers allow to
EML4-ALK fusion gene is present in 3-5% of
Intrinsic resistance to targeted therapy in oncology results from
Term “genetic tumor heterogeneity” means:
DNA methylation is involved in
Turcot syndrome belongs to a group of
The term “oncogene addiction” means
To extracolonic symptoms of familial adenomatous polyposis belong
Hamartoma is
Response to monoclonal anti-EGFR therapy in colorectal cancer metastases depends on:
Bilateral, prophylactic mastectomy should be offered to
Presented pedigree meets the clinical criteria of:
