Saturday, 21 November 2015

Dorsalizing gradient genes --Septooptic dysplasia (SOD)

552.All are true regarding  septooptic dysplasia (SOD) except
a. overrexpression of dorsalizing gradient genes 
b. optic nerve hypoplasia and deficiency of the septum pellucidum
c. HESX1 gene implicated
d. concurrent schizencephaly  in 50% of patients

e. hypoplasia of the hypothalamus

ANS ---a

Neural Tube Dorsalizing Gradient Mutations are divided into those that involve overexpression of dorsalizing gradient genes, such as duplication of the dorsal horns of the spinal cord, duplication of dorsal brainstem structures, and the dorsal interhemispheric variant of HPE, and those that involve underexpression of dorsalizing gradient genes, such as septooptic dysplasia (SOD).

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