Presentation on theme: "Making of and practising and case discussion (you will be asked to make a pedigree for each case)"— Presentation transcript:
Making of and practising and case discussion (you will be asked to make a pedigree for each case)
A 15 year old is referred by their GP because the teenager is asking questions about the ‘family pattern’. His family are known to the department. He has never had a chromosome test himself, but his fathers report reads as follows: 45, XY, der (13;14)(q10;q10)
A couple were investigated after suffering 3 early miscarriages. The reports show the following results: Women: 46XX Man: 46, XY, t (12;14)(q22:q22)
26 year old woman with a 4 year old son with developmental delay who has recently had diagnosis of Fragile X. Genetic testing has shown: Full mutation in son Pre-mutation in mother
Thirty year old woman and her partner. Second child born 3 months ago with Down syndrome. They had Down syndrome serum screening test in pregnancy and it indicated a 1 in 1000 chance of DS, and they therefore did not have invasive testing. You are asked to see them to help them understand screening tests.
Couple whose first child was born with isolated non- syndromic cleft lip and palate. They want to know chance of recurrence.
45 year old man with family history of BrCa1 attends to discuss the risks to his 17 year old daughter. His mother died of breast cancer age 34, and recently his sister age 38 has been found to carry the BrCa1 mutation identified in other members of their mother’s family.
Remember! Next LP (Friday 17 th, 9:00 am – testing for ALL students The test will comprise of 30 MCQs and will last 30 mins After the LP I will hold the lecture about Mutations (Mutagenesis) and Malformations (Teratogenesis) at 11:00 am and I encourage you to participate (this will help you a lot). You will get +1 pts for participating. Thank you!