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1. The correct nomenclature for a Down syndrome boy with a translocation between chromosomes 14 and 21 is: 46,XY,-14,t(14;21) 47,XY,+21 47,XY,-14,t(14;21) 45,XY,t(14;21) None of the above
2. A nineteen year old female with short stature, wide spaced nipples, and primary amenorrhea most likely has the karyotype of: 47,XX,+18 46,XY 47,XXY 45,X None of the above
3. Which of the following procedures are used as a routine technique for karyotyping using light microscopy? C-banding fluorescence in situ hybridization (FISH) G-banding Q-banding BUdR-staining
4. Which of the following procedures are used for detection of specific DNA sequences in interphase nuclei or chromosomes? C-banding fluorescence in situ hybridization (FISH) G-banding Q-banding BUdR-staining
5. Which of the following syndromes are associated with maternal disomy for chromosome 15? Hydatidiform mole Prader Willi Syndrome Angelman Syndrome Klinefelter's Syndrome Turner's Syndrome
6. Which of the following syndromes are associated with the chromosome complement of 47,XXY? Hydatidiform mole Prader Willi Syndrome Angelman Syndrome Klinefelter's Syndrome Turner's Syndrome
7. Which one of the following individuals, from the information given, is not an "obligate carrier" of the mutant disease causing gene in their family. A phenotypically normal woman in a family where an autosomal dominant trait is segregating and her mother and son are affected. A daughter of a man who is affected by an X-linked dominant disorder. A father of a child who is affected with an autosomal recessive disorder. A father of a boy affected with Duchenne muscular dystrophy (X-linked recessive). A mildly mentally impaired mother of a boy affected with the fragile-X (Martin-Bell) syndrome.
8. The majority of cases of DOWN syndrome occur as a result of Non-disjunction during maternal meiosis Mosaicism of normal and trisomic cell lines Unbalanced 14:21 translocations End to end fusion of two chromosomes 21 Non-disjunction during paternal meiosis
9. An abnormal form, shape or position of a part of the body caused by mechanical force is known as a: Malformation Deformation Disruption Dysplasia Sequence
10. A person with two or more different cell lines originating from a single zygote is called a: Syndrome Chimera Sequence Mosaic Heterozygote
11. Chromosomes 1, 3, 19 and 20 are Metacentric Submetacentric Acrocentric Telocentric
12. One would expect that routine cytogenetic analysis using standard G banding at normal levels of resolution could detect most cases of: Cru du Chat syndrome Prader-Willi syndrome Angelman syndrome Miller Deiker syndrome DiGeorge syndrome
13. In the nursery you discover that a dysmorphic newborn has a chromosome abnormality. One of the #3 chromosomes has a terminal deletion in the short arm. In your genetic counseling of the parents you tell them there is no need to study their chromosomes, since what happened to the child is a sporadic event and not likely to occur again. Order parental chromosomes, but reassure them that there is little chance of recurrence even if one of them is found to have a chromosome change. tell them that results on parental chromosomes are needed before you can determine possible recurrence risks. tell them there is a one in four chance of recurrence if one of them is found to have a balanced translocation involving #3 tell them there is a one in four chance of recurrence if one of them is found to have a balanced translocation involving #3, but this risk could be modified by molecular studies using a DNA specific #3 probe.
14. If non-disjunction occurs in the first meiotic division of a male gonadal stem cell for chromosome #21: one would expect an equal number of normal and aneuploid gametes. more disomic than nullisomic gametes. an equal number of nullisomic and disomic gametes. a ratio of normal, disomic and nullisomic gametes of 2:1:1. a ratio of normal, disomic and nullisomic gametes of 1:1:2.
15. Which of the following statements is true? Conversion from a pre-mutation to a full-mutation for fragile X syndrome occurs in male meiosis Female carriers for fragile X syndrome are easily diagnosed by chromosome analysis The fragile X chromosome occurs in all cells of a male affected with the disorder but only in some cells of a transmitting male Fragile X syndrome is the most common inherited cause of mental retardation
16. A lod score refers to: locus of DNA log odds location of DNA mRNA mtDNA
17. In two-point linkage analysis two marker loci are tested for linkage. One marker locus is tested for linkage to a trait locus. a straight line is determined. two markers are analyzed to see which is closest to a disease locus. a ligand is discovered which binds to the disease DNA.
18. Sickle cell anemia is caused by non-sense mutation in the protein coding region of the Beta-globin gene. a missense mutation in the protein coding region of the Beta-globin gene. a deletion of the Beta-globin gene promoter. overexpression of the Beta-globin gene. overexpression of the alpha-globin gene.
19. A young woman is pregnant. She and her husband have been diagnosed as healthy carriers of an abnormal hemoglobin gene. The husband is a carrier of a sickle cell gene, the woman carrier of a Beta-thalassemia gene. Would you recommend to perform amniocentesis and prenatal diagnosis because there is a 25% chance that the child will be affected with a severe anemia. take no action, because the two mutations would compensate each other. test the mother regularly during pregnancy for the development of anemia. prepare the parents that there is a 100% chance that they will have baby with a severe disease. prescribe a high iron diet (e.g., pills) to avoid the development of anemia of the baby during pregnancy.
20. In the pedigree below the child (II-l) in generation II has cystic fibrosis, a disease caused by an autosomal recessive allele. The probability that her unaffected sister (II-2) is a carrier of the cystic fibrosis gene is zero 1/4 1/3 1/2 2/3
21. The percentage of the human genome that codes for structural genes is in the order of: less than 1% between 5% and 10% between 10% and 15% between 15% and 20% between 1% and 3%