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Neurogenetics Practice Questions With Complete Solutions Latest Update
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Neurogenetics Practice Questions With Complete Solutions Latest Update
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Neurogenetics Practice Questions With CompleteSolutions Latest Update
A 10-year-old boy visits an ophthalmologist for the first time after complaining to
his parents that he is having trouble seeing the interactive whiteboard at school.
The ophthalmologist finds a mild refractive error, but is most concerned about
finding Lisch nodules. The presence of iris Lisch nodules is a helpful diagnostic
feature of which of the following syndromes?
A. Gardner syndrome B. Neurofibromatosis type 1 C. Sturge-Weber syndrome D.
Tuberous sclerosis complex E. von Hippel-Lindau disease - correct answers NF1
A young girl with new onset seizure disorder is examined by a neurologist and
found to have non-traumatic periungual and subungual fibromas. These clinical
features are a primary diagnostic feature of which of the following syndromes?
A. Gardner syndrome B. Neurofibromatosis type 1 C. Sturge-Weber syndrome D.
Tuberous sclerosis complex E. von Hippel-Lindau disease - correct answers
Tuberous Sclerosis Complex
A 30-year-old woman with a complicated medical history dies of renal cell
carcinoma. Renal cell carcinoma is a primary cause of death in which of the
following syndromes?
, A. Gardner syndrome B. Neurofibromatosis type 1 C. Sturge-Weber syndrome D.
Tuberous sclerosis E. von Hippel-Lindau disease - correct answers von Hippel-
Lindau
Two sisters are affected with cataracts in infancy, intellectual impairment,
microcephaly, nystagmus, and moderate growth deficiency. Which of the following
syndrome is the most likely diagnosis?
A. Abetalipoproteinemia B. Ataxia telangiectasia C. Friedreich ataxia D. Marinesco-
Sjogren syndrome E. Type 3 Gaucher disease - correct answers Marinesco-Sjogren
Syndrome
Classic depiction
A 40-year-old man presents with pain in his leg associated with a palpable mass.
Biopsy reveals a schwannoma. He previously had a schwannoma removed from his
arm. An MRI of the brain shows no abnormality and an ophthalmological
examination is normal. There is no known family history of similar problems.
Molecular analysis of which one of the following genes would be most likely to
reveal a mutation that might explain his phenotype?
A. NF1 B. NF2 C. SPRED1 D. INI1 E. PTPN11 - correct answers INI1
A 45 year old presents with ringing in the ears and hearing loss. He is found to
have a vestibular schwannoma. Concerned that he might have NF2, you arrange an
eye examination. Which of the following would be supportive of this diagnosis?
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