The mother of the boy (mentioned under question 28) inquires about the child's prognosis. She is worried if he can grow up and have children. What is the physicians response to the mother's concerns.
A 5 year old boy is brought to the office for evaluation. He is joyful in the office, but the mother gives history that his social, speech and motor development is inappropriate. In fact, he lost his speech at the age of 2 years. He has constant dribbling and often remains constipated. The mother says he had feeding problems during infancy and used to cry like meowing. He has strabismus and epicanthic folds. On auscultation, he has a pansystolic murmur. His IQ was tested and was found to be around 55. What is the most likely chromosomal alteration in this patient.
(Source: Professor Yasser Metwally, 2008)
51 year old woman is brought by neighbors with symptoms of abnormal movements since several days now. The woman stays alone and there are distant relatives who come to visit often. The woman's past medical file on record do not say about anything significant but there is a history about her father having some movement disorder at the age of 55 and that he died of aspiration pneumonia. The examination findings are given above in the video. The doctor suspects some neurological inherited disorder. Where is the neurological defect located in this patient?
A) Globus Pallidus, due to GAA repeat on short arm of chromosome 9
B) Caudate nucleus, due to GAA repeat on short arm of chromosome 9
C) Caudate nucleus, due to CAG repeat on short arm of chromosome 4
D) Caudate nucleus, due to CAG repeat on long arm of chromosome 4
D) Substantia nigral pathway
E) Mitral Valve vegetations
F) Caudate nucleus, due to CTG repeat on long arm of chromosome 19
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