Over a period of two years, a man in his early 20s received a series of intermittent chemotherapy and radiotherapy treatments for Hodgkin disease. During this therapy, he and his wife were unable to initiate a pregnancy. The man had a series of his semen samples examined at a fertility clinic. The findings revealed that shortly after each treatment very few mature sperm were present, and abnormal chromosome numbers were often observed in developing spermatocytes. However, such chromosome abnormalities disappeared about 40 days after treatment, and normal sperm reappeared about 74 days post-treatment. How might a genetic counselor explain the time-related differences in sperm production and the appearance and subsequent disappearance of chromosomal abnormalities?
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Concepts of Genetics (12th Edition)
- In the past, the IOC has employed two genetic sex- determination tests. The Barr body test screens for the presence of two X chromosomes. In XX somatic cells, one copy of the X chromosome condenses into a largely inactive structure called a Barr body, which can be seen using a light microscope. In more recent years, a polymerase chain reaction-based screen has been used to amplify the DNA sequence of the SRY gene, which is found only on the Y chromosome. Based on their karyotypes, what would be the outcome of these two tests for each of the four individuals? Drag the labels to indicate the presence or absence of a Barr body and the SRY gene sequence.arrow_forwardChorionic villus sampling is a procedure to determine if there are any abnormalities in chromosome number in the fetus. Why can the chorionic villi be used to determine abnormalities in the fetus?arrow_forwardThe karyotypes shown here depict chromosomal abnormalities. Name the syndromes and if they are male or female?arrow_forward
- Structurally, meiotic cohesins have different components than mitotic cohesins. This leads to what function differences?arrow_forwarda)What is the synaptonemal complex? b)Why are the X and Y chromosomes not considered homologous even though they recombine at the PAR region? c)What is unique about the Y chromosome?arrow_forwardWhy is aneuploidy of the sex chromosomes less debilitating than aneuploidy of even the smallest autosomes? (Note: multiple responses are correct, please choose the best answer(s)) Select one or more: Only one X chromosome is required at any given time. Additional X chromosomes (as in females) are inactivated in most cells except for gametes Dosage compensation requires that all excess chromosomes (i.e. 2 or more) are activated at all times during the cell cycle The Y chromosome carries a number of critical genes involved in spermatogenesis and sex development. Therefore, having two copies of the Y chromosome results in the overproduction of sperm and increased fertility The Y chromosome carries a number of critical genes required for spermatogenesis and sex development, but very few other genes. Therefore, having two copies of the Y chromosome has minimal impact on the balance of gene expressionarrow_forward
- On 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_forwardDescribe the molecular process of X-chromosome inactivation.This description should include the three phases of inactivationand the role of the Xic. Explain what happens to the X chromosomes during embryogenesis, in adult somatic cells, and duringoogenesis.arrow_forwardWhy is X chromosome inactivation important in female cells? (300 word limit)arrow_forward
- Mutations in genes that affect meiosis have been identified in many different model organisms. Most of these mutations result in aneuploidy of more than a single chromosome and are nearly sterile. Explain why this is the case.arrow_forwardWith reference to sex determination in humans, discuss: i) X chromosome inactivation; and ii) Testicular feminizationarrow_forwardWith relevance to sex determination in humans, discuss: i) X chromosome inactivation; and ii) Testicular feminization Provide detail examples.arrow_forward
- Human Biology (MindTap Course List)BiologyISBN:9781305112100Author:Cecie Starr, Beverly McMillanPublisher:Cengage Learning