Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

Table 1 Clinical phenotype of syndromic patients with 16q deletion syndrome

		Yamamoto et al.[1]	Tsoutsou et al.[5]	Goto et al.[13]	DECIPHER 2150	DECIPHER 249502	Present case
Growth	Small for dates	+					+
	Postnatal <3rd centile	+	+	+			+
	Microcephaly	+	+	+			+
Central nervous system and development	Psychomotor retardation	+	+	mild	+	+	+
Head	Large anterior fontanelle	+	+	+
	High forehead	+	+
	Diastasis cranial sutures	-		+
Dysmorphisms	Broad flat nasal bridge	+	+			+
	Hypertelorism	+
	Epicanthal fold		+	+			+
	Low set dysmorphic ears	+	+		+		+
	Anomalies of palpebral fissures	+				+	+
	Upward slanting palpebral fissures	+		+			+
	Micrognathia	+	+				+
Thorax and abdomen	Congenital heart defects	TOF					ASD + PFO
Thorax and abdomen	Ectopic anus	-					+
Extremities	Flexed fingers	-	+
Extremities	Bilateral simian creases	+	+				+
	Malposition of toes	+				+	+

TOF Tetralogy of Fallot, ASD Atrial Septal Defect, PFO Patent Foramen Ovale.

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