7q22-q31: Three groups have reported rearrangements on 7q22-q31: one large family consisted of nine individuals with a balanced translocation t(7;18)(q22-31;q22), in which six individuals were affected with GTS or CT [71]; a single GTS patient had a duplication of 7q22-q31 [72]. Lastly, a third GTS patient was reported with a de novo duplication of the long arm of chromosome 7 [46, XY, dup(7)(q22.1-q31.1)] [73]. Mapping of the breakpoints implicated disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L); however recent screening of 39 GTS individuals did not find any coding mutations [74].
