Fig. 1.

a Array plot showing 2 CNVs on chromosome 17: a terminal deletion (red spots), which is pathogenic, and a benign duplication (green spots). b FISH preparation showing metaphase chromosomes: Bluegnome BAC probe RP11-567O16 (orange), which maps to 17q25.3, and Cytocell Aquarius subtelomeric probe for 17p (green). The signals are consistent with the deletion RP11-567O16 in a ring chromosome identified as ring chromosome 17 by the presence of a green (17p) signal. The ring chromosome 17 replaces a normal chromosome 17. c UCSC snapshot of chromosome 17 showing the CNV of our case (red box). The black bar indicates a magnification of the CNV, and below, the included genes are reported. Red and blue bars indicate the deletions and duplications, respectively, reported in DECIPHER occurring in the same genomic area.