Table 1

Clinical features of patients with partial trisomy 16p

Features	Case 1	Case 2	Case 3	Case 4	Case 5
+, present; –, absent; U, unknown; N, not reported in clinical description.
Mental retardation	+	+	+	+	+
Seizures	+	–	+	–	–
Hearing loss	+	U	+	+	+
Delayed growth	+	–	+	+	+
Microcephaly	+	–	+	+	–
Cleft palate	–	+	+	+	+
Pancreatic insufficiency	+	U	U	+	U
Brain anomalies	+	+	U	+	U
Pachygyria	–	+		–
Abnormal corpus callosum	+	–		+
Optic nerve hypoplasia	+	+	U	U	U
Heart defect	–	–	+	+	+
Vascular ring			–	–	+
Atrial septal defect			+	+	–
Genitourinary abnormalities	–	+	–	+	+
Vesicoureteral reflux		+		+	+
Cystic kidney		–		–	+
Hydronephrosis		+		+	+
Dysmorphic features	+	+	+	+	+
Ear abnormalities	+	+	N	+	+
Thin, fragile hair	+	N	N	+	+
Cutis aplasia	+	N	N	–	–
Small palpebral fissures	N	N	+	+	+
Downward slanting palpebral fissures	N	N	N	–	+
Upward slanting palpebral fissures	N	N	+	–	–
Ptosis	N	N	N	+	+
Hypertelorism	N	N	+	+	+
Broad nasal root	+	N	+	–	+
Bifid nasal tip	N	N	N	+	–
Short philtrum	N	N	+	–	–
High arched palate	N	N	+	–	–
Micrognathia	+	+	N	–	–
Anteriorly placed anus	+	N	N	–	–
Hypoplastic distal phalanges	N	N	+	–	–
2–3 toe syndactyly	N	+	N	+	+