A Rare Chromosome 3 Imbalance and Its Clinical Implications

Table 1

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

3p− phenotype reported in DECIPHER patients	Phenotype reported in proband	Also 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/).