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 Un pericentric inversion Robertsonian translocation deletion tandem duplicate paracentric inversion C. reciprocal translocation ABCDE dispersed duplicate nonreciprocal translocation 123-45 C. ABCDE-FGHIJK78 123-456 Rearrangement: [Select] • Balanced or Unbalanced ✓ [Select] balanced unbalanced

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 Un pericentric inversion Robertsonian translocation deletion tandem duplicate paracentric inversion C. reciprocal translocation ABCDE dispersed duplicate nonreciprocal translocation 123-45 C. ABCDE-FGHIJK78 123-456 Rearrangement: [Select] • Balanced or Unbalanced ✓ [Select] balanced unbalanced

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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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?
Diploid Number of chromosomes, Sex Chromosomes, (+/- whole) Chromosome (+/- partial) e.g. 47, XY, +14 = male with trisomy of chromosome 14 e.g. 46, XX, 1q+ = female with a partial increase to the length of the long arm of chromosome 1 (partial increases or decreases to a single chromosome still have the same diploid number) What is the notation for the following cases? ( A male having Patau syndrome (trisomy 13)
An individual heterozygous for a reciprocal translocation possesses the following chromosomes: A B • C D E F G A B • C D V W X R S • T U E F G R S • T U V W X a. Draw the pairing arrangement of these chromosomes in prophase I of meiosis. b. Diagram the alternate, adjacent-1, and adjacent-2 segregation patterns in anaphase I of meiosis. c. Give the products that result from alternate, adjacent-1, and adjacent-2 segregation.
In a germline progenitor cell before DNA replication (2N), a translocation occurred between a telocentric and submetacentric chromosome resulting in a translocation heterozygote. The location of the translocation is illustrated below. Draw the Prophase I pairing conformation that would result from this translocation. The four types of chromosomes you have now can be labeled as follows: T-WT (telocentric wild type), T-TL (telocentric translocation), SM-WT (submetacentric wild type), and SM-TL (submetacentric translocation). Using these labels, list (please do not draw) the possible outcomes of Anaphase I and the possible phenotypes for each outcome. Please explain your reasoning for each phenotype in a few words. asap
Inversions are known to affect crossing-over. The following homologs have the indicated order (the filled and open circles indicate centromeres): • (A B C D E) o (A D C B E) a. Considering the position of the centromere, what is this sort of inversion called?
Two nonhomologous chromosomes have the following segments, where * represents the centromere: *ABCDEFG , *RSTUVWX. Name the type of chromosomal rearrangements that would produce each of the following chromosomes. *ABABCDEFG , *ABCD , GFEDCBA*RSTUVWX , *RSWVUTX , *ABCWX , *RSTUVDEFG . Which of these types of abnormalities are most likely embryonic lethal and which ones are not usually a problem for the individual carrying them? Briefly explain why.
Part of the karyotype of a diploid individual who is heterozygous for one chromosomal rearrangement is shown in the diagram. The chromosomes involved in the rearrangement, and their homologous pair, are shown. The location of each gene is labeled using horizontal lines and the name of each gene is labeled using letters or numbers. Answer the following questions about the diagram. A. What rearrangement is shown? Be as specific as possible. B. Describe a mutation scenario that could cause this rearrangement to be formed. A B D E F G H IXI A B с D E IIXDD 1 2 3 4 5 6 F G H D 1 2 34 5 6 X
With two pairs of homologous chromosomes, four kinds of gametes can be produced. How many kinds of gametes can be produced with three pairs of homologous chromosomes? What does this suggest for the 23 homologous pairs of chromosomes in human cells?
A male Drosophila melanogaster has the genotype A/a; B/b; C/c; XD/Y (all genes are on separate chromosomes). How many different sperm genotypes can it produce through meiosis of one single pre-gametic (2n) cell? (remember, there is no crossing over in male Drosophila) Explain.
Assume that the Holliday junctions resolve so that there is no crossing over (that is, there is no recombination). For the maternal chromosome list all of the possible base identities at the three positions after the cell repairs any mismatches. Do the same for the paternal chromosome.”
When a single recombination event occurs between a normal chromosome and a chromosome with a paracentric inversion and within the inverted region, what are the expected meiotic products?
Diploid Number of chromosomes, Sex Chromosomes, (+/- whole) Chromosome (+/- partial) e.g. 47, XY, +14 = male with trisomy of chromosome 14 e.g. 46, XX, 1q+ = female with a partial increase to the length of the long arm of chromosome 1 (partial increases or decreases to a single chromosome still have the same diploid number) What is the notation for the following case A boy having Down syndrome