GENETICS Flashcards
MC genetic cause of infertility and hypogonadism in men
Klinefelter Syndrome
47 XXY
Males with Klinefelter syndrome have
A. Hypergonadotropic hypogonadism
B. Hypogonadotropic hypogonadism
C. Hypergonadotropic hypergonadism
D. Hypogonadotropic hypergonadism
A. Hypergonadotropic hypogonadism
Chromosomal abnormality
Down syndrome
Edwards syndrome
Patau syndrome
Klinefelter
Turner
Down syndrome Trisomy 21
Edwards syndrome Tri 18
Patau syndrome Tri 13
Klinefelter 47 XXY
Turner 45X0
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. Medium chain acyl Co-A dehydrogenase
(MCAD)