Concepts of Genetics (12th Edition)
Concepts of Genetics (12th Edition)
12th Edition
ISBN: 9780134604718
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino, Darrell Killian
Publisher: PEARSON
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Chapter 8, Problem 26ESP

In a recent cytogenetic study on 1021 cases of Down syndrome, 46 were the result of translocations, the most frequent of which was symbolized as t(14;21). What does this symbol represent, and how many chromosomes would you expect to be present in t(14;21) Down syndrome individuals?

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In a human genetic study, a family with five phenotypicallynormal children was investigated. Two children were “homozygous”for a Robertsonian translocation between chromosomes19 and 20 (they contained two identical copies of the fusedchromosome). They have only 44 chromosomes but a completegenetic complement. Three of the children were “heterozygous”for the translocation and contained 45 chromosomes,with one translocated chromosome plus a normal copy of bothchromosomes 19 and 20. Two other pregnancies resulted instillbirths. It was later discovered that the parents were firstcousins. Based on this information, determine the chromosomecompositions of the parents. What led to the stillbirths? Whywas the discovery that the parents were first cousins a key pieceof information in understanding the genetics of this family?
An individual is heterozygous for a reciprocal translocation, with the following chromosomes: A • B C D E F A • B C V W X R ST • U D E F R ST • U V W X Q. Explain why the fertility of this individual is likely to be less than the fertility of an individual without a translocation.
Consider the following two nonhomologous wildtype chromosomes, where letters or numbers represent genes, the "-" represents the centromere of each chromosome, and chromosomes are shown on separate lines. ABCDE-FGHIJK 123-45678 Identify the type of rearrangement shown in each of the following (A-C) and then identify whether it is balanced or unbalanced. Assume that the individual is diploid and heterozygous for the rearrangement. A. ABCDE-FGHIJKGH 123-45678 Rearrangement: [Select] • Balanced or Unbalanced: [Select] B. ABCDGF-EHIJK 123-45678 Rearrangement: [Select] Balanced or Unbalanced: [Select]

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