MR Hirsutism micrognathia and cardiac and renal lesions - USMLE Forums
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Old 06-08-2010
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DNA MR Hirsutism micrognathia and cardiac and renal lesions

A 2-year-old boy is brought to the physician because of mental retardation. Physical examination shows hirsutism and micrognathia. A review of the patient’s records shows cardiac and renal abnormalities. Karyotypes are performed for both parents and the child, and the results are shown.

MR Hirsutism micrognathia and cardiac and renal lesions-karyotype.jpg
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Which of the following events is most likely responsible for the findings in this patient?
A. Adjacent I segregation
B. Adjacent II segregation
C. Alternate segregation
D. A recombination event within a paracentric inversion
E. A recombination event within a pericentric inversion

Source: Kaplan Q bank
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Old 06-08-2010
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i think its "recombination event within a paracentric inversion" as FA states that an unbalanced translocation occurs when "..the long arms of 2 acrocentric ch fuse at the centromere and the 2 short arms are lost."

pls correct me if i am wrong
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Old 06-08-2010
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Quote:
Originally Posted by lynk View Post
i think its "recombination event within a paracentric inversion" as FA states that an unbalanced translocation occurs when "..the long arms of 2 acrocentric ch fuse at the centromere and the 2 short arms are lost."

pls correct me if i am wrong
Hi brother. It is E; Recombination event within a Pericentric inversion
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Old 06-02-2011
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i think it is E
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Old 06-02-2011
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pericentric inversions include the centromere but here i dont think centromere is involved..
Can u plz explain it earthpole?
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Old 06-02-2011
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http://ghr.nlm.nih.gov/handbook/illu.../inversion.jpg
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