Table 1

Major clinical features of maternal UPD(14) syndrome

FindingsPreviously reported
cases (n=12)1-150
Present caseAll cases (%)
Premature puberty7/71-151 Too young100
Developmental delay8/101-152 +82
Hypotonia/joint laxity9/12+77
Short stature9/1269
Small hands9/1269
Intrauterine growth retardation7/1254
  • 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.