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Instructions

For each of the following clinical scenarios concerning child health, select the most likely related genetic condition from the list provided.

Options
A
Down Syndrome
B
Cystic Fibrosis
C
Fragile X Syndrome
D
Phenylketonuria
E
Tay-Sachs Disease
F
Duchenne Muscular Dystrophy
G
Turner Syndrome
H
Neurofibromatosis
I
Sickle Cell Anemia
J
Autism Spectrum Disorder
K
Haemophilia
L
Huntington’s Disease
Question 1
A 4-year-old boy presents with a severe chest infection. He has a history of persistent cough, thick sputum and frequent lung infections.
Question 2
A child is experiencing developmental delays, muscle weakness, and has unusually large ears.
Question 3
A newborn was identified on newborn screening. She has a musty odor and is showing signs of intellectual disability.
Question 4
A baby boy lacks certain reflexes and experiences seizures. He shows a red spot in his eyes (cherry-red spot).
Question 5
A toddler has difficulty walking, falls frequently, and experiences muscle weakness and muscle wasting.