Table 2

Clinical data of patients with UPD(14)mat

ReferencePresent caseTotal
34567912131415161719 case 119 case 22122
UPDIsoIsoIso/Hetero2-150 IsoIso/HeteroHeteroIsoIsoHeteroHeteroIsoIso/HeteroHeteroHeteroIso/HeteroHeteroHetero17
M/FMFFMFFFMMFFMFMFMF10F/7M
Age (y;mth) at diagnosis172092;961;3261212130;10;970;3259Prenatal
Precocious puberty+++++++++9/9
Feeding problems+++++++++9/10
IUGR+++++++++++++13/15
Short stature+++++++++++++13/15
Short hands/feet++++++++++++12/14
Motor delay++++++++++++12/15
Hypotonia+++++++++++11/14
Obesity++++++6/15
Scoliosis+++++5/13
Mental delay+++++5/15
Hydrocephalus+++3/13
  • 2-150 Iso = isodisomy, Hetero = heterodisomy.