A 47-year-old accountant visits his GP seeking advice. He has been experiencing a gradual loss of coordination over the past year and has recently been diagnosed with Huntington’s disease. He has been researching the condition online and wants to discuss his findings further. What is the most appropriate inheritance pattern for Huntington’s disease?
A 12-year-old girl presents with complaints of tinnitus and ear pain, as well as a noticeable decrease in her hearing ability. An MRI scan shows that bilateral acoustic neuromas are responsible for her hearing loss. What is the mode of inheritance for this disease?
A 6-year-old girl is referred to the paediatric clinic for failure to thrive. She has failed to maintain her weight and suffers from diarrhoea and frequent respiratory tract infections. A sweat test is performed and the chloride content of the sweat is 68 mmol/l.
Which of the following modes of inheritance fits best with this condition?
A 38-year-old mother attends her first antenatal appointment at eight weeks’ gestation. This is her first pregnancy. She has no past medical history and is taking regular folic acid. She is offered antenatal screening for chromosomal abnormalities, including Down syndrome.
What test is used in antenatal screening for Down syndrome for a 38-year-old mother?
A 35-year-old Jewish woman has been diagnosed with breast cancer and found to be BRCA1-positive. What type of cancer is she most susceptible to developing?
A 10-year-old Caucasian boy presents to the Emergency Department with colicky abdominal pain and nausea. The patient had similar complaints 3 months ago and an abdominal ultrasound at that time revealed multiple gallbladder stones. The patient has a history of cystic fibrosis and is currently receiving treatment with antibiotics, mucolytics, and pancreatic enzyme supplements. A repeat abdominal ultrasound shows inflammation of the gallbladder, multiple calculi, and dilated bile ducts. What is the most likely explanation for the hepatobiliary dysfunction (cholestasis) observed in this patient with cystic fibrosis?
A 5-year old girl is diagnosed with having a genetic condition that is inherited in an autosomal recessive pattern.
Of the following diseases, which is best described as being inherited in an autosomal recessive pattern?
A 35-year-old woman presents with four miscarriages. She has an uneventful pregnancy until the second trimester where she miscarries. The patient has no significant past medical history and has never had any surgery to the abdomen or female reproductive tract. She has a younger brother with learning difficulties and microcephaly. Her husband is fit and healthy as well, and he has no significant family history.
What is the most likely cause of the recurrent miscarriages?
Among cancers, certain types are linked to specific genetic mutations that act as ‘drivers’. For a 34-year-old woman who has been diagnosed with left-sided renal cell carcinoma, a pancreatic neuroendocrine tumor, and retinal haemangioblastomas, which gene is most likely to have a germline mutation?
A 13-year-old boy was hospitalized due to a two-week history of high-grade fever and bleeding gums. Upon examination of his peripheral blood, an abundance of blasts were observed, some of which displayed Auer rods. Which congenital condition is most strongly linked to this presentation?