46,XX sex reversal type 3

(redirected from chromosome Xq26 duplication syndrome)

46,XX sex reversal type 3

A rare condition (OMIM:300833) characterised by mental retardation, isolated growth hormone deficiency and infantile behaviour. 
 
Molecular pathology
Defects of SOX3, which encodes a transcription factor that regulates embryonic development and determines cell fate, cause 46,XX sex reversal type 3.