QuestionSBA
QuestionChoice
Her history suggests a diagnosis of familial hypercholesterolaemia. Her strong family history (where all generations are affected) indicates that this is more likely to be autosomal dominant
10026887
b
Autosomal recessive
QuestionChoice
Her history suggests a diagnosis of familial hypercholesterolaemia. Her strong family history (where all generations are affected) indicates that this is more likely to be autosomal dominant
10026889
d
Mitochondrial
QuestionChoice
Her family history indicates that both males AND females are affected by the condition. X-linked recessive conditions typically show a preference for males as there is only one X chromosome (the other being a Y), therefore they always inherit the disease.
10026888
c
X-linked recessive
QuestionChoice
X-linked dominant disorders can affect males and females of a generation equally; however, it is impossible for a male with an X-linked dominant condition to pass it on to their sons (i.e. her uncle)
10026890
e
X-linked dominant
QuestionChoice
Her family history and high cholesterol levels in relation to her age indicate a diagnosis of familial hypercholesterolaemia. This is due to mutations in LDLR, APOB, and PCSK9 genes. It is an autosomal dominant condition.
10026886
a
Autosomal dominant
Concept
Chapter
2693
5931
Autosomal dominant disorders
Topic
312
Genetics and molecular medicine
Autosomal dominant
17775
A 27-year-old woman presents to her GP with her partner to discuss plans for starting a family. She is concerned about her family history of heart disease, as several relatives have died from myocardial infarctions at a young age. Her maternal grandfather passed away at 45, and both her mother and maternal uncle died at 48 and 52, respectively, from heart attacks. Her 35-year-old brother recently underwent a triple heart bypass. Her grandmother lived to 89 and was healthy, and her father has no known health issues. 

Routine blood tests show that her total cholesterol is 230mg/dL (normal <210mg/dL).


Given her family history, what is the most likely mode of inheritance for this disorder?
a