Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Table 2 Phenotype comparison of patients with partial monosomy of the 21q

Clinical features	1	2	3	6	7	9	11	Actual report
Short stature	+	+		+		–	+	–
Short neck	+	+				–		+
Microcephaly	–	+			+	–	+	–
Brachycephaly						–		–
Dolichocephaly				+		–		–
Low hairline		+				–		+
Epicanthic eye fold	–	–		+		+	–	–
Hypertelorism	–			+		+	+	–
Microphthalmia	+					–	–	–
Highly arched palate	+	+					–	+
Down-slanted palpebral fissures	–	–				+	+	–
Symbrachydactyly	+				+	–		–
Brushfield spots						–		–
Flat nasal bridge						–	–	–
Broad nasal bridge	+	+				–	–	+
Large nose	+	+				+	–	–
Pronounced median raphe of the philtrum	+					–		–
Broad mouth	+	+				–	+	+
Large ears	+	+				–	+	–
Cardiac anomaly	–	–				–	+	+
Clinodactyly of fifth finger	–	+				–	+	+
Palmar crease	–	+				–		–
Hypotonia		+		–		–		+
Hypertonia	+	+		–		–		+
Seizure					+	+	–
Ligamentous laxity						–	–	+
Intelligence quotient or mental retardation	+	+	+	+	+	+	+	+

Original table taken from Lyle et al. [14] and modified for this article by the authors; patients labeled 1 to 11 are patients 31 to 42 in the original report

ISSN: 1752-1947