A 4-year-old boy presents to his pediatrician for severe developmental delay. On exam he is noted to have macroorchidism, hypertelorism, large protruding ears, a large jaw, and a long thin face. Suspicious of what the diagnosis may be, the pediatrician orders a PCR and DNA sequencing. The results reveal an expansion of 250 repeats of CGG. What is the diagnosis of the boy?
AHuntington's disease
BSpinal and bulbar muscular atrophy
CMyotonic dystrophy type 1
DFragile X syndrome
EFriedreich ataxia
An 8-year-old boy is brought to the pediatrician because his mother is concerned about recent behavioral changes. His mother states that she has started to notice that he is slurring his speech and seems to be falling more than normal. On exam, the pediatrician observes the boy has pes cavus, hammer toes, and kyphoscoliosis. Based on these findings, the pediatrician is concerned the child has a trinucleotide repeat disease. Which of the following trinucleotide repeats is this child most likely to possess?
ACTG
BGAA
CCGG
DCAG
EGCC
A healthy 30-year-old woman comes to the physician with her husband for preconception counseling. Her husband is healthy but she is concerned because her brother was recently diagnosed with a genetic liver condition for which he takes penicillamine. Her father-in-law has liver cirrhosis and a tremor. The results of genetic testing show that both the patient and her husband are carriers of a mutation in the ATP7B gene. Which of the following is the chance that this patient’s offspring will eventually develop the hereditary condition?
A0%
B25%
C100%
D50%
E75%
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