Fig. 1

UCSC custom track illustrating the extents of the 1q21 and 8q12 deletions. a The region of interest on chromosome 1 is indicated by the red box. Our patient (red bar 1) carries a 2 Mb deletion in 1q21.1q21.2 (arr(GRCh37) 1q21.1q21.2(145,895,747_147,897,962) × 1). To compare the extent of our patient’s deletion to patients from the literature (Azzi et al4, Spengler et al.[8], Cottrell et al. [10] only the SRS candidate genes discussed by [10] are shown. The green bar displays the well known 1q12.2 microdeletion syndrome. b The region of interest on chromosome 8 is indicated by the red box. Our patient (red bar 1) carries a 77 kb deletion in 8q12.1 affecting the PLAG1 gene (arr[GRCh37] 8q12.1(57,079,399_57,155,945) × 1). Note the larger deletions in patients from the literature [12, 13]. (Among the numerous genes affected in the reported cases, only the PLAG1 gene is indicated)