7q36 deletion and 9p22 duplication: effects of a double imbalance

Table 2 Clinical manifestations of 7q deletion cases

Case	Present case	Frühmesser *et al*. 2012[10]	Ponnala and Dalal, 2011[11]	Vorsanova *et al*. 2008[12]	Ahn *et al*. 2003[13]	Nowaczyk *et al*. 2000[14]	Chen *et al*. 1999[15]	Savage *et al*. 1997[16]	Hara *et al*. 1986[19]
Karyotype	46,XY, der (7), t(7;9) (q36;p22), 9 ph	46,XX, der(7), t(7;17) (q36;p13)	46, XY, der (7), t(7;14), (q33-q32.2)	45,XX, der(7), t(7;21) (q34;q22.13),-21	46,XX, der(7), t(2;7) (q37.3;q34)	46,XY, der(7), t(2;7) (p23.2;q36.1)	46,XX, der(7), t(3;7) (p23;q36)	46,XX, der (7), t(7; 19) (q36.1;q13.43)	46, XX, der(7), t(5;7) (q31:q22)
Origin	Paternal	Maternal	Paternal	de novo	Paternal	Paternal	Paternal	Paternal	Uncertain
Age at diagnosis	5 months §	21 years §	4 years	2 years §	fetus	fetus §	fetus §	fetus §	1 year
Developmental delay	+	+	+	+					+
Mental retardation		+		+					+
Hypotelorism				+
Microftalmia						+
Microcephaly	+		+	+					+
Up slanting palpebral fissures	+			+	+
Malformed ears	+		+	+	+
Broad/bulbous nasal tip	+		+	+					+
Arrhinencephaly							+
Cleft lip					+
Cleft palate					+
Nail hypoplasia	+
Hallux vagus	+
Overlapping toes/fingers	+		+
Fingers malformations	+	+		+
Multiple skeletal abnormalities		+		+
Sacral agenesis							+	+
Urogenitally abnormalities	+					+
Epileptic seizures	+
HPE						+	+
Hypoplasia of the corpus callosum	+	+
Ciclopia							+
Muscular Hypotonia	+	+	+	+
Cardiac defetcts				+
Maternal age at conception	31	30	not informed	24	43	not informed	26	29	35

ISSN: 1755-8166