A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

Figure 3

Dysmorphic features seen in P3 (a–e) and P5 (f–j). Clinical photographs showing (a) P3 aged 16 y with geographic tongue, (b) small chin and large ear, (c) thin upper lip and bulbous nose, (d) small hands, and (e) small feet with large halluces. (f) P5 aged 3 y and 3 m with smooth philtrum, thin upper lip, and full cheeks. (g) P5 aged 9 y and 9 m showing smooth philtrum, full cheeks, (h) fleshy ear lobes, (i) tapering fingers, and (j) long halluces compared to other toes.

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