Basics of Medical Genetics - Buzhiyevska T.I. 2001

Medical Genetic Counseling
Control Questions and Problems

1. WHAT IS A genotype?

2. What are Hereditary diseases?

3. What Research Methods allow for the detection of a mutant Gene in a given Organism?

4. What diagnostic methods make it possible to timely diagnose phenylketonuria before clinical symptoms appear?

5. What research methods are used to verify the Diagnosis of a chromosomal disorder?

6. What are mutually exclusive trait manifestations called?

7. What are allelic genes?

8. What is a gamete? 9. Which gene is referred to as dominant?

10. What does the term "organism heterozygous for a given trait" mean?

11. What is a phenotype?

12. What is the probability of having a child homozygous for a recessive gene when both parents are heterozygous?

13. What is the probability of having a child homozygous for a recessive gene if one parent is homozygous for the dominant allele and the other is heterozygous for this gene?

14. What is the probability of having a child homozygous for a recessive gene if one parent is homozygous for the recessive allele and the other is heterozygous for this gene?

15. What is the probability of having a child with Blood type A if the mother is type O and the father is type B?

16. What is the probability of having a child with blood type A if the mother is type O and the father is type AB?

17. Is it possible to have a child with blood type O if the mother is type A and the father is type B?

18. What is the probability of having an affected son from phenotypically healthy parents if the mother is a heterozygous carrier of an X-linked hereditary disorder?

19. What is combinatorial Variability?

20. What is mutational variability?

21. How are Mutations classified based on The Structure of the genetic material?

22. How are mutations classified according to their causes?

23. Which cellular structures are capable of mutating?

24. What are the types of Gene Mutations?

25. What are the types of chromosomal mutations?

26. What are the possible manifestations of gene mutations in humans?

27. What are the potential phenotypic effects of chromosomal and genomic mutations in humans?

28. What is Modification Variability?

29. What is Pharmacogenetics?

30. What is Genomic Imprinting?

31. In which Cells of the male body is the Y-chromosome present?

32. Which hereditary diseases are effectively diagnosed using Biochemical Methods?

33. What are the Main Features of mass screening programs?

34. What is the primary biochemical defect in hereditary pathology?

35. What methods exist for diagnosing phenylketonuria?

36. Which substances are investigated in patients with mucopolysaccharidosis?

37. How is hereditary information encoded?

38. What is METABOLISM/31.html">Transcription?

39. What is Translation?

40. Name the KEY FEATURES OF The Genetic Code.

41. Which syndrome is characterized by a combination of prenatal hypoplasia, microphthalmia, bilateral cleft lip and palate, postaxial polydactyly, and microcephaly?

42. Is there a difference in the Clinical presentation between the translocation and trisomy variants of Down syndrome?

43. Which inherited monogenic Carbohydrate Metabolism disorder manifests clinically from the first weeks of life?

44. To which type of disorders does Wolf-Hirschhorn syndrome belong?

45. A disorder of which type of metabolism causes Lesch-Nyhan syndrome?

46. Is the short stature in patients with Turner syndrome caused by Growth Hormone deficiency?

47. Which method allows for Differential diagnosis between clinically similar galactosemia and fructosemia?

48. What provisional diagnosis can be made for a 3-year-old girl with delayed physical development and severe deformation of the long tubular BONES OF THE lower extremities, accompanied by hyperaminoaciduria, glucosuria, and elevated urinary phosphates?

49. Which syndrome is characterized by obesity, Muscle hypotonia, acromicria, delayed mental, physical, and sexual development, as well as a microdeletion on the long arm of chromosome 15?

50. Which method can be used to confirm the diagnosis of fragile X syndrome?

51. What diagnosis can be suspected if an infant in their first year of life develops large, frothy, foul-smelling stools, abdominal distension, hypotrophy, anemia, and a sharp slowdown in physical development following the Introduction of cereal porridges and bread into their diet?

52. What are the parental genotypes for a girl with hemophilia to be born?

53. What is the most probable karyotype determined in peripheral blood lymphocytes of a 16-year-old girl, 139 cm tall, with a short neck, low posterior hairline, underdeveloped breasts, and primary Amenorrhea?

54. What is the likely diagnosis for a boy with a Turner syndrome phenotype, cryptorchidism, a systolic murmur at the cardiac apex, and a 46,XY karyotype?

55. What must be excluded from a child's diet to prevent The Development of Clinical symptoms of galactosemia?

56. What is the preliminary diagnosis for a 15-year-old patient presenting with hyperkinesia, hepatomegaly, and a golden-brown corneal ring?

57. What is the frequency (%) of chromosomal abnormalities in Spontaneous Abortion material?

58. What is the probable diagnosis for a patient with an asthenic body type, Scoliosis, ligamentous laxity, arachnodactyly, fair Hair, intellectual disability, and an epileptic syndrome?

59. In which hereditary Metabolic Disorders is the "cherry-red spot" sign observed?

60. What is the inheritance pattern of Marfan Syndrome if a clinical-genealogical analysis reveals characteristic symptoms of varying severity in both a grandmother and her grandson?

61. At what age do the clinical symptoms of Tay-Sachs disease manifest?

62. What is the cause of Mitochondrial Diseases? 63. Does the risk of having a child with Down syndrome depend on the mother's age?

64. What methods can be used for the Prenatal Diagnosis of cystic fibrosis?

65. At what age do Huntington's chorea and Gout clinically manifest?

66. At what age do Mucopolysaccharidoses clinically manifest?

67. What methods of prenatal diagnosis are available for neural tube defects?

68. A 26-year-old primigravida. Family history is unremarkable. She had an acute respiratory infection (ARI) a week ago. Gestational age is 20 weeks. What is the appropriate management strategy for the physician?

69. A 40-year-old pregnant woman with a history of three healthy children. Family history is unremarkable. Gestational age is 7 weeks. What is the appropriate management strategy for the physician?

70. A 28-year-old primigravida. The husband's age is 40. Gestational age is 15 weeks. Family history is unremarkable. What should the physician's management strategy be?