Examen

95. An example of DNA lesion (damage):

96. Genes in which mutation may cause accumulation of mutations in other genes are called:

22. Increased risk of Alzheimer’s disease in adults with Down syndrome results from the increased expression of:

25. Find an INCORRECT statement

36- Indicate clinical characteristics of Marfan syndrome:

1. Ectopic lens

2. Microcephaly

3. Arachnodactyly

4. Widened aortic root

5. Intellectual ability

6. Tall stature

37- First-trimester non-invasive prenatal screening includes the measurement of:

38- Find a correct statement about Wilson disease:

39- Major criteria for Rett syndrome do not include:

40. Find a correct statement of Cri-du chat syndrome:

41. A definitive diagnosis of hereditary breast cancer can be established in the following clinical situation:

42. Li-Fraumeni syndrome is caused by mutations in the following gene:

43. A woman has two healthy sons and one brother affected by haemophilia type A. Which algorithm should be used to calculate the likelihood of carrier status in this woman?

44. ..., microcephaly, delayed psychomotor development... calcifications in a child suggest a diagnosis of:

45. Who should be referred to clinical genetics unit?

1) a woman, whose nephew has simple trisomy 21
2) a girl with short stature but without dysmorphic features and congenital anomalies 3) a boy with syndactyly between 2nd and 3rd toes accompanied by correct intellectual development
4) a couple with one miscarriage in medical history
5) a boy with congenital cardiac defect

46. A diagnosis of foetal alcohol syndrome might be established in the following case:

47.Decreased interpupillary distance is called:

1. Mutations of CDKL5 and FOXG1 genes contribute to the development of:

1. Achondroplasia can be characterized by:

1. Huntington disease is caused by:

1. mutations in the following genes are associated with... (most likely: increased breast

cancer?) risk:

1. Which syndromes affect only females?

1. Microcephaly is typical for:

1. What is the most common cause of congenital adrenal hyperplasia?

1. Non-mendelian inheritance includes:

1. Chromosomal syndromes, associated with increases risk...

1. Short stature is typical for:

67. Find a false statement of Neurofibromatosis type 2... radiotherapy is not indicated in case of tumours assessment...

68. ...is based on:

69. Identification of critical mutation in patients with increased risk hereditary oncological disease does not allow to:

70. Assessment of molecular alterations in tumour cells allows to characterize:

73. Find a false statement about personalized treatment of oncological disease in light of current evidence:

74. Personalized treatment of breast cancer is currently based on:

4. Indicate a high resolution, genome wide method to study chromosomal aberration in cancer:

6. What is the function of DNA repaire systems?

1. Response to monoclonal anti-EGFR therapy in metastatic colorectal cancer depends on

1. Paternal uniparental disomy (pUPD) may underlie the development of:

1. Wilson’s disease is:

1 Which of the following describes correctly Pierre Robin Sequence?

2 Hereditary non-polyposis colorectal cancer is a cancer predisposition syndrome caused by:

3 Find true statement about sex chromosome aneuploidies: