Dr Nur-Genetic Disorders Quiz

Which of the following is an example of an autosomal dominant disorder?

• Cystic fibrosis

• Marfan syndrome

• Duchenne muscular dystrophy

• Turner syndrome

What is the key feature of autosomal recessive inheritance?

• Affects males and females equally

• Requires two copies of the mutated gene for expression

• Shows male-to-male transmission

• Always skips a generation

What chromosomal abnormality is associated with Turner syndrome?

• Trisomy 21

• Monosomy X

• Trisomy 13

• Translocation t(9;22)

Which diagnostic technique is used to identify the Philadelphia chromosome?

• Karyotyping

• FISH

• Array CGH

• PCR

Which disorder is caused by a deletion on chromosome 22q11.2?

• DiGeorge syndrome

• Huntington's disease

• Fragile X syndrome

• Marfan syndrome

What is the inheritance pattern of Duchenne muscular dystrophy?

• Autosomal dominant

• Autosomal recessive

• X-linked recessive

• X-linked dominant

Which genetic mutation leads to Huntington's disease?

• Deletion of chromosome 5p

• CAG trinucleotide repeat expansion in the HTT gene

• Mutation in FBN1

• Translocation t(9;22)

What is the primary feature of autosomal dominant inheritance?

• Equal transmission to males and females

• 25% chance of inheritance if one parent is affected

• Affects only males

• Always involves X chromosomes

Which diagnostic test is most suitable for detecting submicroscopic chromosomal abnormalities?

• Karyotyping

• FISH

• Array CGH

• Clinical examination

What feature is characteristic of Patau syndrome?

• Short stature and webbed neck

• Extra chromosome 13

• CAG repeat in HTT gene

• FBN1 mutation