Clinical Genetic Test

41. Mutations in DMD gene:

49. Find a numerical aberration:

50. Find a numerical aberration:

51. Find a possible cytogenetic result for a patient with Turner syndrome: 

52. A Robertsonian translocation may occur between:

53. The standard banding level for patient with dysmorphic feature is: 

54. What is NOT true about MLPA method:

55. Microdeletion syndrome is usually confirmed using a following FISH probe:

56. Using a CGH method a following aberration might be found:

57. Centromeric probes in FISH may be used for:

58. The acronym MLPA means:

59. How many telomeres are present in a single chromosome 2 during interphase: 

60. DNA sequence complementary to AGATAC is:

61. Gene expression pattern in cancer is changed because of:

62. A hot-spot is:

63. Rett syndrome (RS) might be caused by various mutations located in MECP2, approach to    diagnose RS would be:

64. Find a possible cytogenetic result for a patient with Turner Syndrome:

q- long arm 

p- short arm 

65. Find a possible cytogenetic result for a patient with Down Syndrome:

66. Find a possible cytogenetic result for a patient with Edward Syndrome:

67. What is the abbreviation of chromosome with at least two aberrations according to ISCN rules:

68. The cytogenetic analysis cannot be performed for:

69. Whole arm translocations found in classical cytogenetic is best confirmed by: 

72. The FISH probe is:

73. Which statements about CAIS are correct?

>>CAIS: Complete Androgen Sensitivity Syndrome ("Testicular feminization Syndrome")<<

      1. The Mullerian system typically regresses

      2. Anti Mullerian hormone is not produced

      3. Gonads are testes and are located in the scrotum

      4. Gonads are testes and are abnormally located

      5. patients have female appearance because testosterone cannot act properly and is  aromatized to estrogen

      6. patients have female appearance because dihydrotestosterone is not produced

74. A woman in 19^th week of gestation was referred to clinical genetist. In 15^th week of pregnancy, the patient had amniocentesis due to nuchal translucency 3,5 mm and high risk of Down Syndrome (1;202).

Cytogenetic examination revealed normal female karyotype. What will you recommend? 

75. Cysts in autosomal dominant polycystic kidney disease are typically located within:

76. Find a true statement about sickle cell anemia:

77. Healthy parents have already one son with Hunter disease. What is the risk of recurrence?

78. Huntington’s disease:

81. Which of the following facial features is most sensitive and specific for foetal… syndrome?
 

82. Most of the cancer occurring in the human population:

83. In which microdeletion syndrome cleft lip/palate is a frequent anomaly:

84. The recurrence risk of affected offspring for healthy non-consanguineous parents spinal   muscular atrophy is:

90. Find CORRECT statement about Edwards syndrome:

91. A carrier of a balanced Robertsonian translocation between chromosomes 13 and 21:

92. An obligate carrier of a X-linked recessive mutation:

93. Holoprosencephaly is an anomaly typical for:

94. Infants with Prader-Willi syndrome present with:

95. You are consulting an infant, born in term with birth weight of 1800 grams… short sternum, and the following dysmorphic features: narrow face, … prominent occiput, small mouth and dysplastic ears. This phenotype…

96. Brushfield spots are typical for: