A 'wrongful birth' case was recently brought before a court in which a child with Smith–Lemli–Opitz syndrome was born to apparently healthy parents. This syndrome is characterized by a cluster of birth defects including cleft palate, and an array of problems with the reproductive and urinary organs. Originally considered by their physician as having a nongenetic basis, the parents decided to have another child, who was also born with Smith–Lemli–Opitz syndrome. In the role of a genetic counselor, instruct the court about what occurred, including the probability of the parents having two affected offspring, knowing that the disorder is inherited as a recessive trait. Draw a pedigree of the families of this couple, showing the relevant individuals.
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
2. Mendel's Laws of Inheritance
Pedigrees
Problem 33a
Textbook Question
The gene controlling the Xg blood group alleles (Xg⁺ and Xg⁻) and the gene controlling a newly described form of inherited recessive muscle weakness called episodic muscle weakness (EMWX) (Ryan et al., 1999) are closely linked on the X chromosome in humans at position Xp22.3 (the tip of the short arm). A male with EMWX who is Xg⁻ marries a woman who is Xg⁺ and they have eight daughters and one son, all of whom are normal for muscle function, the male being Xg⁺ and all the daughters being heterozygous at both the EMWX and Xg loci. Following is a table that lists three of the daughters with the phenotypes of their husbands and children. Create a pedigree that represents all data stated above and in the following table.

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Step 1: Understand the inheritance pattern. The Xg blood group and EMWX traits are linked on the X chromosome. The Xg⁺ allele is dominant over Xg⁻, and EMWX is recessive. Males inherit their X chromosome from their mother and their Y chromosome from their father, while females inherit one X chromosome from each parent.
Step 2: Analyze the parental genotypes. The father is Xg⁻ and has EMWX (recessive trait), meaning his X chromosome carries both Xg⁻ and the EMWX allele. The mother is Xg⁺ and does not have EMWX, meaning her X chromosome carries Xg⁺ and no EMWX allele.
Step 3: Determine the offspring genotypes. All daughters inherit one X chromosome from each parent, making them heterozygous (Xg⁺Xg⁻) and carriers for EMWX. The son inherits the X chromosome from the mother (Xg⁺) and the Y chromosome from the father, making him Xg⁺ and unaffected by EMWX.
Step 4: Interpret the pedigree chart. The chart shows the inheritance of the Xg blood group alleles and confirms that none of the offspring exhibit EMWX symptoms, as the recessive EMWX allele is masked by the dominant normal allele in all daughters and is absent in the son.
Step 5: Use the table data to complete the pedigree. The table provides information about the phenotypes of the daughters' husbands and children, which can be used to extend the pedigree and analyze further inheritance patterns of Xg and EMWX traits.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
X-Linked Inheritance
X-linked inheritance refers to the pattern of inheritance for genes located on the X chromosome. Males have one X and one Y chromosome, while females have two X chromosomes. This means that X-linked traits can be expressed differently in males and females, with males being more likely to express recessive traits due to having only one X chromosome.
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X-Inactivation
Genotype and Phenotype
Genotype refers to the genetic makeup of an individual, including the alleles present for a particular gene, while phenotype is the observable expression of those genes, influenced by both genotype and environmental factors. In the context of the question, the genotypes of the parents determine the phenotypes of their offspring, such as the presence or absence of muscle weakness and blood group alleles.
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Pedigree Analysis
Pedigree analysis is a diagrammatic method used to trace the inheritance of traits through generations in a family. It helps visualize how genetic traits are passed from parents to offspring, allowing for the identification of carriers and the prediction of potential genetic disorders. In this case, the pedigree chart illustrates the inheritance patterns of the Xg blood group and episodic muscle weakness (EMWX) in the family.
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