You have seen a 18 year old man on the ward who has a recent diagnosis and mentioned to the consultant that his younger sister is currently being tested. Your consultant suggests it may be appropriate to refer the family for genetic testing. Please draw a pedigree to send with the referral, based on the family history in the notes:
"…I note that the proband and his brother are affected, although neither of their parents nor the 2 maternal sisters or 1 paternal sister are. The parents appear to be first cousins, as the grandmother and paternal grandfather were siblings. Their parents (the proband’s great grandparents) were not affected as far as we know. The proband has 2 younger sisters who have no symptoms as yet… "
