Figure 2.

(a, b) Subject 6 (with proximal microdeletion) at 20 months. Note slight epicanthal folds, mild left ptosis, broad nasal root with round tip, and normal ears. (c–e) Subject 13 (with proximal microdeletion and clinically diagnosed TAR syndrome) at 17 months. Note shortened forearms and adducted thumb. (f) Radiograph of subject 13, who had radial aplasia, hooking clavicles, shortened ulna, and normal hands and humeri. (g, h) Subject 27 (with deletion of proximal and distal 1q21.1) at 17 months. Note brachycephaly, full cheeks, flat philtrum, and posteriorly rotated ears. (i) Subject 33 (with deletion of proximal and distal 1q21.1) at 8 months. Note radial hypoplasia. (j) Subject 40 (with proximal microduplication) at 4 months. Note square forehead, prominence of the eyes, low nasal bridge, and flame nevus. (k) Subject 41 (with proximal microduplication) at 6 years. Note strabismus, broad nasal bridge, prominent ears, and myopathic facies with open mouth. (l, m) Subject 47 (with proximal microduplication) at 8 years. Note epicanthal folds, cleft lip repair, toenail dystrophy, and wide feet. (n) Subject 70 (with distal microdeletion) at 3.5 years. Note slight midfacial flattening and triangular nose.