Table 1

Major clinical features of maternal UPD(14) syndrome

Findings	Previously reported cases (n=12)^1-150	Present case	All cases (%)
Premature puberty	7/7^1-151	Too young	100
Developmental delay	8/10^1-152	+	82
Hypotonia/joint laxity	9/12	+	77
Short stature	9/12	−	69
Small hands	9/12	−	69
Intrauterine growth retardation	7/12	−	54
Macrocephaly/hydrocephalus	4/12	+	38

↵1-150 Refs 2–7, 10–15. The case reported by Papenhausenet al 9 was not included because UPD(14)mat was not proven. The case reported by Sirchiaet al 8 was excluded because clinical evaluation was not possible.
↵1-151 Five cases were too young to evaluate.
↵1-152 Two cases were too young to evaluate.