Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review

Figure 1

Deletion of 16p11.2 noted using microarray technology. (a) An ideogram of chromosome 16 shows the location of the deletion that is present in this patient in the context of the entire chromosome 16 (arrows). (b) The area highlighted (lighter colored region) in portion (a) of this figure is shown in an expanded view in this image. The deletion in this patient (highlighted by the red arrow; top row) is shown via smooth signal and allele difference patterns, as well as copy number state values. This deletion is localized to band 16p11.2 (nucleotides 29567295_30177999) [GRCh37].

(a)

(b)