Table 1: 3p− phenotypes reported at least twice in DECIPHER patients (15/07/2012).

3p− phenotype reported in DECIPHER patientsPhenotype reported in probandAlso reported in 3q+ syndrome

Microcephaly
(Mild micrognathia)
Ptosis of the eyelids
MR/DevDel?+
Small/short nose
Seizures++
AVSD++
Clinodactyly/polydactyly+
(Clinodactyly)
+
Dysmorphic++
Small hands/feet
Hypotonia
Hypertelorism+
Feeding problems++
Horseshoe kidney
Short stature

DECIPHER patient numbers used: 256371, 249344, 261155, 256542, 251667, 1876, 253652, 249965 253231, 248772 258577, 248715, 248716, 253820, 251867, 253894, 1372, 1213. These data were taken from the DECIPHER Consortium database (http://decipher.sanger.ac.uk/).