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Lucy and Lee

Case presentation of a young couple who may be carriers of a genetic disease.
Lucy is 26 years old and comes to see you for preconception advice. She wonders if she has a chance of having a child with cystic fibrosis (CF) as her partner’s nephew has the condition. Lucy is well, has no significant past medical problems and has no children. Her only regular medication is the combined oral contraceptive pill.
Her partner Lee is well and has no children. His brother has a 2 year old son who has been diagnosed with CF. She isn’t aware of anyone in her family with CF, her Mum and Dad are both well but she remembers being told that her Mum’s youngest brother Jim was in and out of hospital with a bad chest when he was a child and died as a teenager.
Lucy has one sister, Hannah, who is 30 and well. Hannah has 3 children from the same Dad and they are all well. Both her Mum and Dad are well. Her Dad is an only child and her Mum had three brothers; two are alive and well and the third Jim, already described, died as a child.

What information would be helpful in working out her risk of having a child affected with CF?

In week 1 you looked at taking family histories and drawing pedigrees. In order to refresh your skills, draw a pedigree from the case described. Refer to this Health Education England guide.

If you wish to try drawing with online software try this tool from Progeny.

If drawing the pedigree on paper. Use a piece of A4 in landscape profile, with 4 lines running horizontally. Start with the consultand (the person who is consulting) and place them in the middle of the line one up from the bottom, unless they are a child then use the bottom line. By each symbol write their name/ DOB/ relevant clinical features/ death (date) and cause if available & applicable. Starting with the consultand move across to their siblings include their partners and children. Then move up to the consultand’s parents, their siblings’ partners and children. Then the grandparents and their siblings.

© Wellcome Genome Campus Advanced Courses and Scientific Conferences
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Genomic Scenarios in Primary Care

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