A mother from rural Louisiana brings her 4-year-old son to a pediatrician. Her son is intellectually disabled, and she hopes that genetic testing will help determine the cause of her son's condition. She had previously been opposed to allowing physicians to treat her son, but his impulsive behavior and learning disabilities are making it difficult to manage his care on her own. On exam, the child has a long, thin face with a large jaw, protruding ears, and macroorchidism. The physician also hears a high-pitched holosystolic murmur at the apex of the heart that radiates to the axilla. Which of the following trinucleotide repeats is most likely affected in this individual?
AGAA on chromosome 9
BCGG on the sex chromosome X
CCTG on chromosome 19
DCTG on chromosome 8
ECAG on chromosome 4
A 5-year-old boy is brought to the clinic by his mother for an annual check-up. The family recently moved from Nebraska and is hoping to establish care. The patient is home schooled and mom is concerned about her son’s development. He is only able to say 2 to 3 word sentences and has been “behind on his alphabet." He always seems to be disinterested and "just seems to be behind.” The patient is observed to be focused on playing with his cars during the interview. Physical examination demonstrate a well-nourished child with poor eye contact, a prominent jaw, a single palmar crease, and bilaterally enlarged testicles. What is the most likely mechanism of this patient’s findings?
ACGG trinucleotide repeat expansion
BMicrodeletion of the long arm of chromosome 7
CMeiotic nondisjunction of chromosome 21
DCTG trinucleotide repeat expansion
EMicrodeletion of the short arm of chromosome 5
Two dizygotic twins present to the university clinic because they believe they are being poisoned through the school's cafeteria food. They have brought these concerns up in the past, but no other students or cafeteria staff support this belief. Both of them are average students with strong and weak subject areas as demonstrated by their course grade-books. They have no known medical conditions and are not known to abuse illicit substances. Which statement best describes the condition these patients have?
AA trial separation is likely to worsen symptoms.
BThe disorder is its own disease entity in DSM-5.
CAntipsychotic medications are rarely beneficial.
DCan affect two or more closely related individuals.
ECognitive behavioral therapy is a good first-line.
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