Concepts of Genetics (11th Edition)
11th Edition
ISBN: 9780321948915
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 8, Problem 28ESP
Summary Introduction
To determine: The reason for mosaicism caused by mitotic events.
Introduction: Turner syndrome is a genetic disorder in which the female is either partially or completely missing an X chromosome. Turner syndrome can lead to several medical and development problems, which include heart defect, short height, or failure of development of the ovaries.
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Though an individual with abberations such as Robertsonian translocation may be phenotypically normal, they can generate gametes through meiosis that have atypical organizations of chromosomes, resulting in recurrent fetal abnormalities or miscarriages. Why, despite these Robertsonian translocations, are affected cells still able to generate typical gametes through meiosis?
Uniparental disomy (UPD) occurs when both chromosomes of a pair or areas from one chromosome in any individual have been inherited from a single parent. Since chromosomal numbers remain the same, cytogenetic analysis will not detect them. Hence, UPD disorders were not described until recently since molecular analysis is required to show that the two chromosomes originated from the same parent.
Read recently published literature regarding UPD, and answer the following questions:
What are the mechanisms that lead to UPD?
Give at least 3 examples of UPD disorders and their clinical consequences:
UPD Disorder
OMIM #
Locus
Type of UPD
Phenotype (include images)
1
2
3
Explain why a person with Klinefelter Syndrome (XXY) still exhibits abnormal phenotypes despite the fact that one of the extra X Chromosome is inactivated practically leaving an XY active sex chromosomes similar to a normal male?
Chapter 8 Solutions
Concepts of Genetics (11th Edition)
Ch. 8 - A human female with Turner syndrome (47, X) also...Ch. 8 - When two plants belonging to the same genus but...Ch. 8 - What is the effect of a rare double crossover (a)...Ch. 8 - Prob. 1CSCh. 8 - Prob. 2CSCh. 8 - Aquatic vegetation overgrowth, usually controlled...Ch. 8 - HOW DO WE KNOW? In this chapter, we have focused...Ch. 8 - Review the Chapter Concepts list on page 171....Ch. 8 - Define these pairs of terms, and distinguish...Ch. 8 - For a species with a diploid number of 18,...
Ch. 8 - What evidence suggests that Down syndrome is more...Ch. 8 - What evidence indicates that humans with aneuploid...Ch. 8 - Contrast the fertility of an allotetraploid with...Ch. 8 - Describe the origin of cultivated American cotton.Ch. 8 - Predict how the synaptic configurations of...Ch. 8 - Inversions are said to suppress crossing over. Is...Ch. 8 - Contrast the genetic composition of gametes...Ch. 8 - Human adult hemoglobin is a tetramer containing...Ch. 8 - Discuss Ohnos hypothesis on the role of gene...Ch. 8 - What roles have inversions and translocations...Ch. 8 - The primrose, Primula kewensis, has 36 chromosomes...Ch. 8 - Certain varieties of chrysanthemums contain 18,...Ch. 8 - Drosophila may be monosomic for chromosome 4, yet...Ch. 8 - Mendelian ratios are modified in crosses involving...Ch. 8 - Having correctly established the F2 ratio in...Ch. 8 - The mutations called bobbed in Drosophila result...Ch. 8 - The outcome of a single crossover between...Ch. 8 - A couple planning their family are aware that...Ch. 8 - In a cross in Drosophila, a female heterozygous...Ch. 8 - A woman who sought genetic counseling is found to...Ch. 8 - Prob. 25ESPCh. 8 - In a recent cytogenetic study on 1021 cases of...Ch. 8 - A boy with Klinefelter syndrome (47,XXY) is born...Ch. 8 - Prob. 28ESPCh. 8 - Prob. 29ESPCh. 8 - A 3-year-old child exhibited some early indication...Ch. 8 - A normal female is discovered with 45 chromosomes,...Ch. 8 - Prob. 32ESP
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- People with Down syndrome have an extra copy of chromosome 21, for a total of 47 chromosomes. However, in a few cases of Down syndrome, 46 chromosomes are present. This total includes two normal-looking chromosomes 21, one normal chromosome 14, and a longer-than-normal chromosome 14. Interpret this observation. How can these individuals have 46 chromosomes?arrow_forwardAssuming no other abnormalities, classify each of the following human sex chromosome complements as to whether or not individuals with that complement will be morphologically male or female. Three human sex chromosome complements will be classified as male and three will be classified as female. XXY XYY XXX XO XY XXarrow_forwardFor each of the following chromosome complements, what is the phenotypic sex of a person who has a. XY with the SRY gene deleted? b. XX with a copy of the SRY gene on an autosomal chromosome? c. XO with a copy of the SRY gene on an autosomal chromosome? d. XXY with the SRY gene deleted? e. XXYY with one copy of the SRY gene deleted?arrow_forward
- In a karyotype of a man whose wife has had several miscarriages, it was discovered that he had onlv 45 chromosomes. However, he displayed no obvious phenotypic defects. Furthermore, one of the chromosomes of pair 15 was abnormally long. Which of the following terms best describes the condition of this man? a. monosomy b,. trisomy c. tetrasomy d. translocation carrier e. edward syndormearrow_forward. Researchers discovered recently that the sole functionof the SRY protein is to activate an autosomal genecalled Sox9 in the presumptive gonad (before it has“decided” to become a testis or an ovary).a. What would be the sex of an XY individual homozygous for nonfunctional mutant alleles of Sox9?Explain.arrow_forwardA boy with Klinefelter syndrome (47,XXY) is born to a mother who is phenotypically normal and a father who has the X- linked skin condition called anhidrotic ectodermal dysplasia. The boy has patches of normal skin and patches of abnormal skin. Which of the following statemnets likely explains these observations? The father contributed the extra X chromosome in the son as a result of a non-disjunction in meiosis I during spermatogenesis. The mother contributed the extra X chromosome in the son as a result of a non-disjunction in meiosis II during oogenesis. The mother contributed the extra X chromosome in the son as a result of a non-disjunction in meiosis I during oogenesis. The father contributed the extra X chromosome in the son as a result of a non-disjunction in meiosis II during spermatogenesis. Either parent could have contributed to the extra X chromosome in the son as a results of disjunction in either meiosis I or meiosis II during…arrow_forward
- The Xg cell-surface antigen is coded for by a gene located on the X chromosome. No equivalent gene exists on the Y chromosome. Two codominant alleles of this gene have been identified: Xg1 and Xg2. A woman of genotype Xg2/Xg2 bears children with a man of genotype Xg1/Y, and they produce a son with Klinefelter syndrome of genotype Xg1/Xg2Y. Using proper genetic terminology, briefly explain how this individual was generated. In which parent and in which meiotic division did the mistake occur?arrow_forwardOn rare occasions, people are born with a condition known as uniparental disomy. It happens when an individual inherits both copies of achromosome from one parent and no copies from the other parent. Thisoccurs when two abnormal gametes happen to complement each otherto produce a diploid zygote. For example, an abnormal sperm thatlacks chromosome 15 could fertilize an egg that contains two copies ofchromosome 15. In this situation, the individual has maternal uniparental disomy 15 because both copies of chromosome 15 were inheritedfrom the mother. Alternatively, an abnormal sperm with two copies ofchromosome 15 could fertilize an egg with no copies. This is known aspaternal uniparental disomy 15. If a female is born with paternal uniparental disomy 15, would you expect her to be phenotypically normal,have Angelman syndrome (AS), or have Prader-Willi syndrome(PWS)? Explain. Would you expect her to produce normal offspring oroffspring affected with AS or PWS?arrow_forwardA phenotypically normal woman has an abnormally structured chromosome 2, along with a normal homologue. She marries a phenotypically normal man with an abnormally structured chromosome 16 and a normal homologue. What is the probability of their child will have an abnormal chromosome 2 and 16? What is the probability that this child, having inherited both abnormal chromosomes, will now pass both abnormal chromosomes to its children?arrow_forward
- The following Pedigree shows an unknown genetic disorder. The disorder is believed to be caused by single gene mutations. For the following disorder, determine whether the mutant gene is located on an autosome or X chromosome. arrow_forwardFor the following chromosome complements, what is the phenotypic sex of a person who has Q. XO with a copy of the SRY gene on an autosomal chromosome?arrow_forwardFor the following chromosome complements, what is the phenotypic sex of a person who has Q. XX with a copy of the SRY gene on an autosomal chromosome?arrow_forward
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