PMC7189309_01
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].
CRIPE2020-2031701.001.jpg
PMC7189309_01_CRIPE2020-2031701.001.jpg
fig1
Chromosomal microarray revealed a pathogenic microdeletion at 16p11.2(29567295_30177999)x1 (Figure 1).
External photograph of the (a) right and (b) left eye showing the posterior embryotoxon (arrows).
CRIPE2020-2031701.002.jpg
PMC7189309_01_CRIPE2020-2031701.002.jpg
fig2