Genetic Counseling Repor1.edited

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1 Genetic Counseling Report Dalia Galvan West Coast University BIO 225 17/11/2023

2 Genetic Counseling Report Case 1: Hemophilia Inheritance Risk Description of the Condition and Inheritance Pattern: Hemophilia is a genetic disorder characterized by the deficiency of clotting factors, resulting in prolonged bleeding. The condition is typically inherited in an X-linked recessive manner. In this case, the father's brother having hemophilia indicates that the father is likely a carrier of the gene. Punnet Square: XH Xh Y XHY XhY X XHX XhX Evaluation of Inheritance Risk: Since the father is a carrier (XhY), there is a 50% chance that he will pass the Xh chromosome to his daughter and a 50% chance of passing the Y chromosome to his son. If the child inherits the Xh chromosome, they will have hemophilia. Case 2: Turner Syndrome Inheritance Risk Description of the Condition and Inheritance Pattern: Turner syndrome is a chromosomal disorder that occurs in females and is often characterized by the absence of one X chromosome. It is a random event and not usually inherited. However, in some cases, it can be inherited if one parent carries a structural abnormality in their sex chromosomes. Punnet Square: N/A (Turner syndrome is not inherited in a typical Mendelian fashion) Evaluation of Inheritance Risk: Given that the mother's aunt has Turner syndrome, it is important to note that it is not usually inherited. In this case, the risk is minimal, and the occurrence of Turner syndrome in the child is likely due to a random event rather than direct inheritance.

3 Case 3: Sickle Cell Anemia Inheritance Risk Description of the Condition and Inheritance Pattern: Sickle cell anemia is an autosomal recessive disorder caused by a mutation in the HBB gene. Both parents must be carriers (heterozygous) for their child to inherit the condition. Punnet Square: H h H HH Hh h Hh hh Evaluation of Inheritance Risk: The fact that the first child has sickle cell anemia indicates that both parents are carriers (Hh). There is a 25% chance of having a child with sickle cell anemia in each pregnancy. The father's unknown family history may introduce some uncertainty, but based on available information, the risk is significant. Case 4: Huntington’s Disease Inheritance Risk Description of the Condition and Inheritance Pattern: Huntington's disease is an autosomal dominant disorder caused by a mutation in the HTT gene. If one parent has the mutated gene, there is a 50% chance of passing it to their offspring. Punnet Square: H h H HH Hh h Hh hh

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4 Evaluation of Inheritance Risk: Since the father has Huntington's disease, there is a 50% chance of passing the mutated gene to each child. The risk is significant, and genetic testing may provide more precise information about the likelihood of inheritance. References Ljung, R., & Tedgård, U. (2003). Genetic counseling of hemophilia carriers. In Seminars in thrombosis and hemostasis (Vol. 29, No. 01, pp. 031-036). Copyright© 2003 by Thieme

5 Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.:+ 1 (212) 584-4662. Miller, C. H. (2021). The clinical genetics of hemophilia B (factor IX deficiency). The Application of Clinical Genetics , 445-454.

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