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Old 08-04-2012
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Default Nonsense mutation in the SRY gene

A 46,XY infant is born with a nonsense mutation in the SRY gene. Which of the following will be the symptomatic manifestation of this mutation?
(A) Female phenotype
(B) Female pseudohermaphrodite
(C) Male phenotype
(D) Male pseudohermaphrodite
(E) True hermaphrodite
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Old 08-04-2012
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Default my answer

(A) Female phenotype
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Old 08-29-2012
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rapiddo - what's the answer??
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Old 08-29-2012
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i think A) female phenotype is most appropriate

SRY gene is testis determining factor....mutation leads to lack of sertoli cells( so, no antimullerian hormone) and lack of leydig cells( no male external and internal genitalia.......)
i think this leads to XY(male genotype) with female internal genitalia( since, no antimullerian hormone)....i don't think lower 2/3rd vagina(from urogenital sinus) would be formed

anyways as any other options seems to be correct i'm goin for this one....
correct me....
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Old 08-29-2012
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Sorry Casandra for not indicating the answer.
Its Female Phenotype ( explained well by venky2600).

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Originally Posted by Casandra View Post
rapiddo - what's the answer??
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