Table 2.

Reported chromosomal aberrations overlapping with the 3q13.31-22.1 deletion region.

Karyotype	Age at last exam (Years)	Spectrum of Malformations
		Short Stature	Ear abnormality	Ocular:				Oral abnormality	Genital abnormalities	CAKUT*	Hand abnormality	Foot abnormality	Joints contractures	Neurological:
				Blepharophimosis	Epicanthic folds	Ptosis of eyelids	Other							ACC	Hypotonia	Developmental delay and/or delayed speech**
46,XX,del(3)(q31.1q13.3)dn [22]	4	+					+							+	+	+
46,XY,del(3)(q13.11q13.33)dn [47]	3				+		+	+	+							+
46,XX,del(3)(q12.3-q13.33)dn [23]	17						+	+			+	+			+	+
46,XX,del(3)(q13.11-q13.33)dn [23]	10						+								+	+
46,XX,del(3)(q13.13-q13.33)dn [23]	5						+							+		+
46,XY,del(3)(q13.2-13.32)dn [23]	18		+				+	+			+				+	+
46,XY,del(3)(q13.12q21.3)dn [19]	5		+		+		+	+	+	+	+	+	+	+	+	+
46,XY,del(3)(q13.11q21.3)dn [23]	1.5		+		+		+		+	+	+				+	+
46,XY,del(3)(q13.32q21.2)dn [23]	8				+	+	+				+					+
46,XX,del(3)(q12q21)dn [16]	4							+			+				+	+
46,XY,del(3)(q12q21)dn [16]	1.5		+				+				+	+		+	+	+
46,XX,del(3)(q11q21)dn [18]	7				+	+	+								+	+
46,XX,del(3)(q12q21)dn [17]	8	+			+			+		+			+		+	+
46,XX,del(3)(q12-q21)dn [20]	0								+	+		+	+	+	+	NA
46,XX,del(3)(q21q23)dn [48]	5		+	+	+			+								+
46,XY,del(3)(q21q23)dn [49]	0			+	+	+	+									NA
46,XY,del(3)(q21.3q22.3)dn [50]	1	+		+	+	+	+		+		+				+	+
46,XY,del(3)(q12q23)dn [21]	6		+	+	+	+	+	+	+		+	+	+		+	+
46,XY,del(3)(q13.31q22.1)dn (present report)	14	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+

^*CAKUT phenotypes: duplicated collecting system (Okada et al [17]), unilateral renal hypoplasia/agenesis (Molin et al [23]), hydrourethers and stenosis of urethral valves (Genuardi et al [19]), hydronephrosis (McMorrow et al [20]), and VUR and agenesis (Present case)

^**Information on developmental delay not available for infants (NA)

ACC: Agenesis of corpus callosum