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Rating of competence skills. 1. To build a family tree, to determine the genotypes of all members, type of inheritance, and to calculate the genetic risk of having a sick child in a8.2.1. Case decision(7.4. Medical Biology and Genetics. Textbook edited by prof. Kuandykova EW, Almaty, 2004 - / 202-205. Tasks №15-25) 1. To build a family tree, to determine the genotypes of all members, type of inheritance, and to calculate the genetic risk of having a sick child in a family in which the father and mother are healthy, two sons are sick, aunt and paternal grandfather sick. Penetrance of the gene, 80%. 2.45 years old man has impairment of memory and attention. the lowering of intelligence during the following year he developed involuntary movements of the fingers and toes and facial muscles such as grimacing. Prior to that he was healthy: his parents were killed in a car accident. He has a daughter who is healthy. DNA analysis showed the presence of 43 repeats of the triplet CAG. Determine the type of mutation. 3. To build a family tree, to define genotypes of all members of a family tree, type of inheritance and to calculate genetic risk of the birth of the sick child in a family in which healthy parents consist in incestuous marriages (cousin siblings), the first pregnancy ended with the spontaneous abortion, the second – dead birth(the sex is unknown), the third birth of the sick girl. 4. List the main types of mutations that explain the mechanisms of their formation and clinical signs of Down's syndrome. 5. To build a family tree, to define genotypes of all members of a family tree, type of inheritance and to calculate genetic risk of the birth of a sick person in the family, in which parents are healthy, daughter is healthy- bearer of mutant gene, 2 sons are sick. 6. Describe the type of mutation, karyotype, and the mechanism of the main clinical features of patients with Patau syndrome. 7. To build a family tree, to determine the genotypes of all members, type of inheritance, and to calculate the genetic risk of having a sick child in a family in which the husband is healthy, the wife is-sick, 2 children are healthy: a son and a daughter, 2 children are sick: a son and a daughter. The mutant gene is localized in the X chromosome. 8. Describe the type of mutation, karyotype, and the mechanism of the main clinical features of patients with Edvard’s syndrome. 9. To build a family tree, to define genotypes of all members of a family tree, type of inheritance and to calculate genetic risk of the birth of the sick child in a family in which healthy parents consist in incestuous marriages (aunt and uncle) and children are sick: a daughter and a son. 10. Describe the type of mutation, karyotype, and the mechanism of the main clinical features of patients with the syndrome Shershevsky-Turner. 11. To build a family tree, to define genotypes of all members of a family tree who have parental genotypes 2 and 3 having the blood group of ABO (homozygote mother, father-heterozygote) genotypes and types of children's blood, antigens in red blood cells, antibodies in the serum of all family members. 14. 2 years old boy was sent to the pediatric clinic for evaluation of the causes of growth retardation. In early childhood, the child had diarrhea and abdominal cramps that resolved with the replacement of the mixture. When added to the diet of regular food, the child had offensive stools containing undigested food particles. His weight and height were lower while being observed. Define method of diagnosis. Define the mode of inheritance of the disease. 15.. To build a family tree, to determine the genotypes of all members, type of inheritance, and to calculate the genetic risk of having a sick child in a family in which the father is healthy, mother is sick, the daughter is healthy, but the son is sick. Penetrance of the gene, 30%. 16. In an unrelated parents' marriage a boy was born after 38 weeks. Shortly after the birth parents and the nurse drew attention to the muscular hypotonic, and poor appetite, lethargy, weak cry, decreased reflexes, poor sucking. Parents and older sister are healthy. By karyotyping method in situ a deletion of chromosome 15q11-q13 was revealed by hybridization. Place a diagnosis. 17. Probed - a healthy woman. Her sister is healthy, and two brothers have Daltons. Mother and the father of probed are healthy. Four sisters, mother of the probed are healthy, their husbands are healthy. The grandmother of the probing’s maternal well, my grandfather suffered from color blindness. From the color-blind father of the probed patients were observed. Make a family tree. Define: a) the mode of inheritance of this pathology and the possible genotypes of individuals in the family; b) The probability of birth in the probed patients colorblind children under the condition that she marries a healthy man; c) what answer must be given to a probed by physician-geneticist? 18. Propends have a night blindness. His two brothers are also sick.There is not anyone who suffer from blindness from father’s side. Mother of the probed is sick.2sisters and 2 brothers are healthy. They have only healthy children. It is known that from mother’s side: the grandmother is sick, the grandfather is healthy; great-grandfather suffered from blindness. The probing’s wife, her parents and relatives are. Make a family tree. Define: a) mode of inheritance of this pathology and if possible, genotypes of individuals in the family; b) the probability of birth in the probed of sick children if he marries a healthy woman; c)what advice should give a physician-geneticist? 19. 6-year-old boy is undergoing tests in connection with mild delay health. He had difficulty in climbing stairs, running, reduced strength and endurance during intensive exercise. His parents, two brothers and sisters are completely healthy. The level of CK in serum was 50 times higher than normal. Place a diagnosis. What is the risk of having another affected child in the family. To determine mode of inheritance of the disease, such as the inheritance of the disease, the genotype of the probed and their parents and siblings, the probability of birth of sick children if he marries a healthy woman. 20. A young couple who are in incestuous marriage without children came to the medical-genetic consultation. What medical-genetic counseling should be given and evaluation of genetic risk of offspring’s? 21. Make a family tree. Define: a) mode of inheritance of this pathology and if possible, genotypes of individuals in the family; b) the probability of birth in the probed of sick children if she marries a healthy man; 22. The patient has an increase of the liver and spleen. While being observed at clinical and laboratory a sharp decrease in the level of ceruloplasmin in the blood was observed. Put a diagnosis and determine a possible method of treatment. 23.A young couple comes to a medical-genetic consultation. The husband is ill with achondroplasia (an autosomal dominant disorder) and heterozygotes. The first child in the family is healthy. Penetrance of the gene, 80%. What is the genetic risk for the next child. 7.3. Assessment of competence, communication skills. 7.3.1. Ability to properly present the material in the conversation, ability to work in a team.
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