Figure 1.

Figure 1.

Facial features of affected males (A-E) and heterozygous females (F-K) with int22h1/int22h2-mediated Xq28 duplication syndrome

A and B are brothers, ages 11 and 3 years, respectively.

C, D, and E are ages 3 years, 15 years, and 9 months, respectively.

F, G, and H are sisters, ages 4, 6, and 8 years, respectively.

I, J, and K are ages 32, 25, and 47 years, respectively.

Note the tall forehead, large ears, wide and depressed nasal bridge, high nasal root, and thick vermilion of the lower lip in most of these individuals [El-Hattab et al 2011, El-Hattab et al 2015, Ballout et al 2020].

From: Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated

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