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Instructions for diagramming the result of a robertsonian translocation involving chromosomes 14 and 21, as well as a question about the genetic disorder that may result from such a translocation. Students are asked to label all chromosomes and parts of chromosomes in their diagrams, and to identify the name of the genetic disorder if the embryo is affected.
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E105 โ Exam 3 April 12th, 2011
This exam contains 7 questions plus one bonus question. Please make sure your copy of the exam has them all. Please show all calculations/work for full credit. Question #1: (1 6 pts.) Question #2: (1 4 pts.) Question #3: (1 6 pts.) Question #4: (1 4 pts.) Question #5: ( 17 pts.) Question #6: (1 5 pts.) Question #7: ( 8 pts.) TOTAL: (100 pts.) Bonus: (5 pts.) GRAND TOTAL:___________________________ โโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโโ NAME: __________________________________________________________________________________ SIGNATURE:____________________________________________________________________________
2. (Continued) d) In the space below, draw a cell that contains the translocated chromosome that you drew in part (b) of this question and also contains (in the same cell) two copies of chromosome 14 and one copy of chromosome 21. Be sure to label all of the chromosomes and parts of chromosomes present in your diagram ( 2 pts.) (i) What is the phenotype of the embryo from which this somatic cell was taken? (Does the embryo have a genetic disorder or is this embryo phenotypically normal? If the embryo would have a genetic disorder, what is the name of that genetic disorder?) (1 pt.) This embryo would have trisomy 14. (ii) How many chromosomes (total) does this embryo possess? (0.5 pt.) 46 (iii) Would you expect this embryo to be viable? (0.5 pt.) No
Bonus Question: (5 pts.) Name the specific chromosomal abnormality present and two major phenotypic characteristics for each of the two following syndromes: (a) Prader-Willi syndrome: Type of chromosomal abnormality present : __ Deletion (on chromosome 15) __(0.5 pt.) Two major phenotypic characteristics: (2 pts.) Severe compulsive eating disorder Morbid (life-threatening) obesity May develop heart disease at an early age May develop diabetes Endocrine abnormalities Hypogonadism (reduced size of male testes and genitalia) Intellectual impairment (mild) (b) Cri-du-Chat syndrome: Type of chromosomal abnormality present : _ Deletion (on chromosome 5, p arm) (0.5 pt.) Two major phenotypic characteristics: (2 pts.) Cry of newborn baby resembles the cry of a cat. Microencephaly (small head size) Low IQ Deformity of larynx Widely set eyes Low set ears