Property:AnswerCExp
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This mutation reflects the insertion of an inappropriate stop codon 5'...TAC to TAA...3'. mRNA transcription of this sequence will be: 5'...GGC UAA GUG AAG AAG UCU...3'. The second trinucleotide UAA is a stop codon, which does not correspond to any amino acid. It leads to the formation of a truncated dystrophin protein. +
Since achondroplasia is an autosomal dominant genetic disorder with complete penetrance, there is 50% chance the mutant allele is transmitted to the offspring. +
While preductal coarction of the aorta is associated with Turner syndrome, patients typically have decreased levels of estrogen due to ovarian dysgenesis. +
This is a missense mutation due to replacement of G at the first position of the second codon with C. +
Among patients with intolerance to beta-blocker, patients with HOCM can be treated with a calcium channel blocker, such as verapamil, to decrease myocardial contractility. Calcium ion channel mutations are associated with neurological diseases. +
Correct. Benign positional vertigo (BPV) is the most likely cause of this patient’s vertigo. BPV is not typically associated with hearing loss. Patients have brief episodes of vertigo with positional changes, typically when turning over in bed. This patient had a positive response to the Dix-Hallpike maneuver, which confirms the diagnosis. BPV is due to deposition of calcium debris in the semicircular canals. Medications such as diazepam or meclizine as well as canalith repositioning (Epley’s maneuver) are used to treat the condition. The latter is a series of head rotational positions intended to relocate free floating particles in the semicircular canals. +
Investigating for other causes of hepatitis is not necessary as the diagnosis of chronic hepatitis B is already established. +
Correct. Benign positional vertigo (BPV) is the most likely cause of this patient’s vertigo. BPV is not typically associated with hearing loss. Patients have brief episodes of vertigo with positional changes, typically when turning over in bed. This patient had a positive response to the Dix-Hallpike maneuver, which confirms the diagnosis. BPV is due to deposition of calcium debris in the semicircular canals. Medications such as diazepam or meclizine as well as canalith repositioning (Epley’s maneuver) are used to treat the condition. The latter is a series of head rotational positions intended to relocate free floating particles in the semicircular canals. +
Pleiotropy occurs when one gene influences multiple phenotypic traits. Consequently, a mutation in a pleiotropic gene may have an effect on some or all traits simultaneously. While the ''Fibrillin'' mutations of Marfan syndrome are illustrations of pleiotropy, pleiotropy is not the most accurate descriptor of the resident's argument. +
The most common secreting pituitary tumor would be a prolactinoma, which presents in adults with bilateral hemianopsia, galactorrhea and amenorrhea. In children, it causes headache and growth arrest. Another possible tumor would be a growth hormone secreting tumor, which would cause accelerated growth. This child has none of these symptoms. +
This question is not implicated in defining risk factors or possible etiologies for hypertension. +
Missense mutation is a point mutation where a change in a single nucleotide leads to the formation of a codon that codes for a different amino acid. An example of a disorder caused by germline nonsense mutations is Becker Muscular Dystrophy. +
Pott's disease is a presentation of extrapulmonary tuberculosis that involves the spinal vertebrae. The hilar and spinal lesions in this patient strongly suggest tuberculosis infection. +
Nonenveloped dsDNA viruses include adenovirus, papillomavirus, and polyomavirus. Adenovirus is a common cause of bilateral viral conjunctivitis. +