Question

A 9-year-old boy has short stature, learning difficulties, and 'elfin' facies. He is very sociable but has difficulty with spatial tasks. Suspected diagnosis is confirmed by genetic testing revealing deletion on chromosome 7. Which condition does this most likely represent?

Accepted Answer

Williams syndrome

Answer

Down syndrome

Answer

Fragile X syndrome

Answer

Turner syndrome

Answer

Prader-Willi syndrome

Practice question

A 9-year-old boy has short stature, learning difficulties, and 'elfin' facies. He is very sociable but has difficulty with spatial tasks. Suspected diagnosis is confirmed by genetic testing revealing deletion on chromosome 7. Which condition does this most likely represent?