GENETICS Flashcards

1
Q

MC genetic cause of infertility and hypogonadism in men

A

Klinefelter Syndrome

47 XXY

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2
Q

Males with Klinefelter syndrome have

A. Hypergonadotropic hypogonadism
B. Hypogonadotropic hypogonadism
C. Hypergonadotropic hypergonadism
D. Hypogonadotropic hypergonadism

A

A. Hypergonadotropic hypogonadism

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3
Q

Chromosomal abnormality

Down syndrome
Edwards syndrome
Patau syndrome
Klinefelter
Turner

A

Down syndrome Trisomy 21
Edwards syndrome Tri 18
Patau syndrome Tri 13
Klinefelter 47 XXY
Turner 45X0

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4
Q

MC inborn error of beta oxidation

A. Medium chain acyl Co-A dehydrogenase
B. Short chain acyl Co-A dehydrogenase
C. Long chain acyl Co-A dehydrogenase
D. Very long chain acyl Co-A dehydrogenase

A

A. Medium chain acyl Co-A dehydrogenase
(MCAD)

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5
Q
A
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