kindly ensure you have utilized the school chart to answer the following questions
Carol and Frank present to you at 10 weeks gestation. Carol’s brother has cystic fibrosis and the couple have come to you as they are concerned that their baby may inherit the disease.
Talk about us and our first relatives
What mode of inheritance does CF have?
What is the risk of Carol being a carrier?
What is the risk of Frank being a carrier?
What is the risk of the baby being affected by the condition?
What proportion of genes do we share with our first cousin?
What is the risk of a recessive condition in first cousin marriages?
Barbara is a 36 year old lady who presents with a breast lump. Her mother had ovarian cancer at the age of 43 and a maternal aunt had breast cancer at the age of 40. Barbara has heard that some breast cancer can run in families and as she has Jewish ancestry, she was wondering if this might be the case in her family.
• Is it important to take details about families with history in women presenting with breast lumps?
• Is there likely to be a genetic inherited component to this pedigree?
• Which genes could be involved / responsible?
• Is the Jewish ancestry likely to be relevant?
• What is the likelihood of this lady being a mutation carrier
• What factors need to be taken into consideration to calculate the risk of this lady developing breast cancer?
• Which surgery is mainly offered to women with BRAC?
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