Table 1

Clinical features in cases 1 and 2 compared to microscopic visible 1qter deletions

Manifestations of patients with
microscopic visible 1qter deletions2 3 		Case 1 Case 2
General
Mental retardation++
Growth retardation++
Microcephaly++
Hypotonia+
Seizures+
Face
Sparse, fine hair+
Prominent forehead/metopic ridge+
Upward slanting palpebral fissures+
Epicanthic folds++
Strabismus+
Flat nasal bridge+
Short, broad nose++
Smooth, long philtrum++
Thin vermilion++
Downturned corners of the mouth+
Micrognathia+
Cleft palate+
Abnormal ears+
Other
Short neck+
Cardiac anomaly++
Hypospadias++
Abnormal hands+
Abnormal feet+
Gastro-oesophageal reflux++
Corpus callosum a/hypoplasia++