Examen

43: Find an INCORRECT statement:

44: The phenotype of turner syndrome is NOT characterized by:

45: CHARGE association consists of:

1: ear anomalies
2: choanal atresia
3: cleft palate

4: genitourinary defect

5: hypothyrodism

46: Clinical presentation of patau syndrome is not characterized by:

47: Healthy parents have already one child with cystic fibrosis. Which sentence correctly describes the theoretical risk of recurrence in the offspring?

48: Why cholesterol supplementation in smith-lemli-opitz syndrome (SLOS) has a limited efficacy with respect to neurodevelopmental outcome?

49: which answer correctly describes mutation in achondroplasia and kabuki syndrome?

50: A 9-year-old boy was referred to clinical genetics unit due to intellectual disability. His mother has a mild intellectual disability. Physical examination revealed microcephaly, prominent forehead hypertelorism coarse facial appearance pectus carinatum as well as short softy fleshy hands with hyperextensible fingers parents of the boy have recently noticed brief episodes of collapse after exposition to unexpected auditory stimuli what is the most likely diagnosis in the child?

51: Choose a correct statement about Duchenne muscular dystrophy (DMD)

52: Which sentence with respect to spinal muscular atrophy is correct regardless of the type?

53: Find a correct sentence:

54: Which answer correctly presents the other of phases that are distinctive for natural history of Rett syndrome

55. which sentence about sickle-cell anaemia is incorrect:

56. Find a false statement about cancer predisposition syndrome:

57. Turcot syndrome is:

58. which blood biochemical alteration are typical for a salt-wasting disease, which is a manifestation of congenital adrenal hyperplasia?

59. Find a FALSE statement about complete androgen insensitivity syndrome:

60. The following biochemical parameters are measured in the triple test:

61. It is recommended to perform the PAPP-A test:

62. What happens with Wolfferian ducts in normal determination of male sex?

63. In a 30-year-old pregnant woman (16hbd), whose husband is a carrier of balanced robertsonian translocation between chromosomes 14 and 21:

64. Which answer correctly presents neoplasms that are typical for Von Hippel-Lindau syndrome?

65. Hereditary breast/ovarian cancer susceptibility syndrome is characterized by:

66. The cancer tissue may be analyzed for mutations in many different genes. In some instances, the presence/lack of a particular mutation is called a predictive marker. It allows to predict:

67. Find a FALSE statement on Knudson theory:

68. Carriers of mutations in the following genes have an increased risk of glioma:

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

70. HSR abbreviation means:

71. Presence of HSR in cancer cells is a hallmark of:

72. The term ``double minute chromosomes ́ ́means:

73. the term ``chromothripsis ́ ́means:

74. The phenomenon called "haploinsufficiency":

87. Genes with only one transcriptionally active copy (maternal or paternal) are called:

88. DNA methylation is not associated with:

89. The PCR is a technique used for:

90. Restriction enzymes

91. PCR product quantity can be measured after:

92. What determines what DNA fragment you amplify during PCR:

93. A hot-spot is:

94. Sequencing is a technique used for: