Fig. 2

An inverted, reciprocal translocation between chromosomes X and 2. a The inverted translocation in subject 2 results in DNA exchange between the X chromosome and chromosome 2. The chromosome 2 break occurred in the p arm at position 59,405,748, leaving minor (24%) and major (76%) portions, and the chromosome X break occurred at the extreme q arm at position 151,118,513 leaving a minor (3%) and major (97%) portions. As a result, GABRE, GABRA3, and MECP2 are translocated from the X chromosome to chromosome 2. b A de novo mutation in subject 2 is also observed that is intronic to multiple isoforms (e.g., ENST00000303391) of MECP2 and upstream of other isoforms (e.g., ENST00000415944) of MECP2. The mutation lies within the observed binding site of multiple transcription factors, including Pol II