The woman in Problem 24 has had two miscarriages. She has come to you, an established genetic counselor, with these questions: Is there a genetic explanation of her frequent miscarriages? Should she abandon her attempts to have a child of her own? If not, what is the chance that she could have a normal child? Provide an informed response to her concerns.
Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
6. Chromosomal Variation
Chromosomal Mutations: Aneuploidy
Problem 27a
Textbook Question
A 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 mother's skin is completely normal with no signs of the skin abnormality. In contrast, her son has patches of normal skin and patches of abnormal skin. Which parent contributed the abnormal gamete?

1
Understand the genetic basis of Klinefelter syndrome: Klinefelter syndrome occurs when an individual has an extra X chromosome, resulting in a 47,XXY karyotype. This means that the boy inherited one X chromosome from his mother, one X chromosome from his father, and one Y chromosome from his father.
Analyze the inheritance of the X-linked condition: Anhidrotic ectodermal dysplasia is an X-linked condition, meaning the gene responsible for the condition is located on the X chromosome. Since males have only one X chromosome, they will express the condition if they inherit the affected X chromosome.
Examine the boy's phenotype: The boy has patches of normal skin and patches of abnormal skin. This mosaic pattern suggests that the boy has two different X chromosomes that are being expressed in different cells due to X-inactivation, a process where one X chromosome is randomly inactivated in each cell of females (or individuals with more than one X chromosome).
Determine the source of the abnormal X chromosome: The father has the X-linked condition, so his X chromosome carries the mutation for anhidrotic ectodermal dysplasia. The mother is phenotypically normal, meaning her X chromosome does not carry the mutation. Since the boy has one normal X chromosome and one abnormal X chromosome, the abnormal X chromosome must have come from the father.
Conclude which parent contributed the abnormal gamete: The father contributed the abnormal gamete. Specifically, he contributed a gamete with both an X chromosome carrying the mutation for anhidrotic ectodermal dysplasia and a Y chromosome, leading to the boy's 47,XXY karyotype and the mosaic skin phenotype.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Klinefelter Syndrome
Klinefelter syndrome is a genetic condition in males characterized by the presence of an extra X chromosome, resulting in a 47,XXY karyotype. This condition can lead to various physical and developmental features, including infertility, reduced testosterone levels, and sometimes learning difficulties. Understanding Klinefelter syndrome is crucial for analyzing the genetic contributions of the parents in this scenario.
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Human Sex Chromosomes
X-linked Inheritance
X-linked inheritance refers to the pattern of inheritance for genes located on the X chromosome. Conditions that are X-linked, such as anhidrotic ectodermal dysplasia, typically manifest in males who have only one X chromosome. In this case, the father, who has the X-linked condition, can only pass on his Y chromosome to sons, meaning he cannot contribute the abnormal X chromosome responsible for the skin condition.
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X-Inactivation
Gamete Contribution
Gamete contribution refers to the genetic material provided by each parent during reproduction. In this context, the mother contributes one X chromosome and one Y chromosome (in the case of a son), while the father contributes either an X or a Y chromosome. Since the mother is phenotypically normal and the father has an X-linked condition, the abnormal gamete must have come from the mother, who could be a carrier of the abnormal gene.
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Gamete Development
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