Table 1.

16q22.3 duplication syndrome cases

	Patient 1 [6]	Patient 2 [4]	Patient 3 [5]	Patient 4 [1]	Patient 5 [1]	Patient 6 (this report)
Duplication Size	6.1 Mb	8.3 Mb	17.6 Mb	8.85 Mb	8.85 Mb	10.5 Mb
Cytoband	16q22.1q23.1	16q22.1q23.1	16q22.3q24.3	16q22.3q23.3	16q22.3q23.3	16q22.3q24.1
Sex	M	M	F	M	F	M
Height	‐3 SD	‐2 SD	Not reported	0 SD	+ 1 SD	+ 1.39 SD
Weight	‐2 SD	‐2.5 SD	Not reported	‐1 SD	‐1 SD	>  + 3 SD
OFC	‐0.6 SD	<  − 2 SD	Not reported	‐2.6 SD	+ 2 SD	+ 0.54 SD
ID	+	+	‐	+	‐	+
Seizures	+	‐	‐	+	‐	‐
Dysmorphic features (including midface hypoplasia)	+	+	‐	+	‐	+
Congenital anomalies	+	+	‐	+	‐	+
Neurologic Features	+	+	+	+	‐	-
Psychiatric Features	‐	‐	+	‐	+	-
Other	5th finger clinodactyly, flat foot, wide gait, cryptorchidism, mild anemia, vesicoureteric reflux	Vision loss, hypothyroidism	None	5th finger clinodactyly, left toes with outward deviation	5th finger clinodactyly	Cleft palate, obesity, pubertal delay

Comparison of the clinical features of the six known patients carrying duplications of the16q22.3 region, including the patient presented in this paper. Adapted from Gunther et al. [1]