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Alexandria University Medical Research Institute Department Of Alexandria University Semester: Autumn Medical Research Institute Academic year: 2019/2020 Department of Human Genetics Time allowed: 120 minutes Master Degree Date: 6/01/2020 Course title: Clinical Cytogenetics Total marks: 60 marks Course code: 1713708 Final Exam ___________________________________________________________________________ Question 1: (30 marks, 30 mins) Choose the correct answer:(0.5-mark, 1 min each) 1- A child is born with a cleft lip and palate. This birth defect may be associated with the following: a) A disruption defect related to amniotic bands. b) A healthy, otherwise completely normal, newborn infant. c) A chromosome disorder such as trisomy 13. d) All of the above. 2-The most common chromosome abnormality in first trimester spontaneous miscarriages is: a) trisomy. b) monosomy. c) triploidy. d) tetrasomy. 3- Which of the following karyotypes is not compatible with survival to birth? a) 47,XY,+13 b) 47,XX,+18 c) 47,XY,+21 d) 45,Y 4- The DiGeorge syndrome is caused by a deletion in which chromosome? a) 4 b) 7 c) 15 d) 22 5- Which of the following is not a chromosome instability syndrome? a) Klinefelter syndrome b) Ataxia telangiectasia c) Fanconi anaemia d) Bloom syndrome Page 1 of 18 6- Which of the following trisomy karyotypes has the mildest effect on human development? a) 47,XXX b) 47,XXY c) 47,XX,+13 d) 47,XY,+21 7- Triploids have _____ of each kind of chromosome. a) one b) two c) three d) four 8- When an individual has only one of a particular type of chromosome it's described as _____. a) monosomy b) disomy c) trisomy d) tetrasomy 9- A(n) _____ is the movement of a segment of a chromosome from one chromosome to another nonhomologous chromosome. a) inversion b) translocation c) deletion d) duplication 10- When a broken segment from one chromosome attaches to its homologue a(n) _____ occurs. a) duplication b) deletion c) inversion d) both A and B 11- Which of the following may result in abnormal gametes and offspring? a) inversion b) translocation c) deletion d) all of the above Page 2 of 18 12- Down syndrome that tends to run in the family of either the mother or father is the result of _____. a) deletion b) inversion c) duplication d) translocation 13- Cri du chat syndrome is the result of a(n) _____. a) inversion b) translocation c) deletion d) duplication 14- Which of the following cell types is not used to examine chromosomes? a) white blood cells b) bone marrow cells c) red blood cells d) all of the above can be used 15- Chromosomes may be broken by _____. a) viruses b) radiation c) certain organic chemicals d) all of the above 16- A(n) _____ occurs when a segment of chromosome is turned around 180o. a) inversion b) translocation c) deletion d) duplication 17- When a karyotype is done chromosomes are arranged in pairs based on _____. a) size b) shape c) centromere location d) all of the above 18- Nondisjunction _____. a) results in gametes with too few chromosomes b) can occur during meiosis I c) can occur during meiosis II d) all of the above Page 3 of 18 19- Cri-du-chat syndrome is associated with a) a missing chromosome number 5. b) an additional chromosome number 5. c) a deletion of the long arm of chromosome number 5. d) a deletion of the short arm of chromosome number 5. 20- Approximately ____ percentage of spontaneous abortions result from extra or missing chromosomes. a) 10 b) 25 c) 50 d) 75 21- The most common autosomal aneuploid is a) trisomy 13. b) trisomy 15. c) trisomy 18. d) trisomy 21. 22- A (an)____ chromosome has its centromere near a tip so that it has one long arm and one very short arm. a) metacentric b) submetacentric c) acrocentric d) none of the above 23- In a (an)____, the short arm of two acrocentric chromosomes break, and the long arms join, forming an unusual, long chromosome. a) Robertsonian translocation b) reciprocal translocation c) inversion d) duplication 24- When chromatids divide along the wrong plane, structures with identical arms called ____ are formed. a) ring chromosomes b) translocations c) isochromosomes d) satellites 25- ____ contains protein-encoding genes. a) heterochromatin b) euchromatin c) pericentric inversions d) aneuploids Page 4 of 18 26- Heterochromatic regions at the ends of chromosomes are called a) centromeres. b) euchromatin. c) telomeres. d) satellites. 27- A triploid human karyotype has how many chromosomes? a) 23. b) 46. c) 69. d) 92. 28- Nondisjunction of chromosome 21 during meiosis II in human females can result in all of the following chromosome complements in a zygote except (assume the oocyte is fertilized by a sperm with a normal chromosome set) a) no chromosome 21. b) euploid for chromosome 21. c) monosomic for chromosome 21. d) trisomic for chromosome 21. 29- Consider the following normal sequence of genes: a b c d e f g h. The sequence a b f e d c g h represents a (an) a) deletion. b) duplication. c) inversion. d) translocation. 30- Which of the following karyotypes is not possible in the offspring of a translocation carrier (involving chromosomes 14 and 21) and a normal individual. a) deficient 14 or deficient 21 b) normal c) translocation Down syndrome d) all are possible outcomes 31-The sequential development of the genital system can best be described as : a) internal and external genital tract dependent upon primordial germ cell hormone secretion b) gonadal differentiation and hormone secretion determining internal then external tract development c) mesonephric duct hormone secretion forming genital ridge then internal and external tract development d) internal tract determining gonadal then hormone secretion for external tract development Page 5 of 18 e) paramesonephric duct forming genital ridge then hormone secretion for internal and external tract development 32-The offspring of a 45,X female : a) Normal females b) Normal males c) Offspring with a chromosome anomaly d) None of the above 33- The offspring of a 47,XXY will be a) Males only b) Females only c) Half males and half females d) Non of the above 34-Sex chromosome deletion occur in: a) Monosomy of autosome b) Partial monosomy of a sex chromosome c) Monosomy of sex chromosome d) Partial monosomy of an autosome 35-Which of the following would result in a Turner phenotype a- Mos 47,XXX[15]/46,XX[35] b- 46,X,r(X) c- 45,XX,rob(21;22)(q10;q10) d- 46,XX,t(X;1)(q22;p21) 36-A chromosomal analysis is obtained on a young woman with mild signs of Turner syndrome and reveals a mos 45,X [30]/46,XX[20] karyotype. Nondisjunction is most likely to have occurred in: a) maternal meiosis I b) maternal meiosis II c) paternal meiosis I d) mitosis after fertilization Page 6 of 18 37-The meiotic error leading to an XYY male is: a) Meiosis I in mother b) Meiosis I in father c) Meiosis II in mother d) Meiosis II in father 38. Aneuploidy is usually deleterious as _________________ a) Chromosomal pairing is hampered b) Gene balance is disrupted c) Size of individual may vary d) Chromosomal disintegration is increased 39. Klinefelter syndrome results due to ____________ a) Non-disjunction in the male gamete b) Non-disjunction in the female gamete c) Gradual loss of chromosome d) Non-disjunction in any of the gametes 40-. Patau syndrome is a result of which of the following? a) Non-disjunction of sex chromosome in female b) Non- disjunction of sex chromosome in male c) Non-disjunction of chromosome 18 d) Non-disjunction of chromosome 13 41-. At what maternal age the probability of having a child with Down’s syndrome is increased drastically? a) 25 b) 30 c) 35 d) 45 42. Chromosome ____________ trisomy leads to Edward’s syndrome. a) 12 b) 13 c) 18 d) 21 43. Which one of the following is the only active gene in the inactivated X chromosome? a) XIST b) XCE c) Histone coding gene d) Ribosomal gene 44. A Y linked gene ___________________ a) Is expressed only when homozygous b) Is present near the telomere of long arm in human Page 7 of 18 c) Is carried by mother d) Expressed only in men 45. An X linked recessive gene would appear to __________________ a) Be expressed in both males and females equally b) Skip generations c) Be lethal d) Gradually degrade 46. Which of the following is wrong? a) Y chromosome lacks dosage compensation b) DMD gene is an X linked gene. c) Y linked gene like hemophilia passes from father to son d) X linked recessive genes are carried by females 47. A turner child born to normal parents is hemophilic. Where did the non- disjunction occur? a) Mother b) Father c) Zygote d) Grand mother 48. Deletion of a region led to over expression of a gene X. What do you conclude from this observation? a) Part of gene X is mutated b) Promoter of gene X is deleted c) Regulator of gene X is deleted d) No effect on gene X or its regulators 49. Which of the following is wrong for sex chromosome? a) X chromosome is larger than Y b) Female human are homozygous c) Y chromosome carries TDF d) All genes present on Y chromosome are unique to it 50- A child was born XY, but never developed external male genitals. The child has: a) 46,XY CGD b) Androgen-insensitivity syndrome c) ovotesticular DSD d) Down Syndrome 51-Chris was born XY and appeared female during childhood.
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