Table 1

Clinical characteristics in AS patients with UPD

Isochromosome (n=6) 45,XY,t(15q;15q)Isodisomy (n=10) 46,XX or 46,XY
Clinical characteristicsPatient 1Patient 2Freeman et al11Tonket al17Ramsden et al21*Fridman et al14Botanni et al12Gillessen-Kaesbach et al16Beuten et al19Prasad & Wagstaff20Smith et al13Smith et al27
n: number of cases. ND: not determined.
*Revised by us.
Consistent and frequent (more than 80%)
Age (y)9532.5997.51051078114.530
Developmental delay+++++++++++++++
Speech <3 words068355001015836
Gestures/commun−++++++−+++++
Ataxia++/−+++/−+/−++++/−+/−++/−+/−
Frequent laughter+++++++−++++++
Hand flapping++++−+
Hyperactivity++++++++++++
Microcephaly++−++−−++−−+−−
Abnormal EEG+++++++++++
Seizures++−−+++++++−−+−+
Age of seizure onset (y)0.60.676.84.53551.5
Age of walking onset (y)753.522.52.72.52.32.56222.523
Associated (20–80%)
Flat occiput++/−−−+−−
Protruding tongue−−−+−+−
Feeding problems−−−−−+
Prognathism−−++−−++++
Wide mouth+−−++−++++++++
Frequent drooling++++++
Hypopigmented−++−−−−
Hyperphagia−+−++++
Weight (centile)5097956ND989790905010979797
Height (centile)50109050ND9897252590752539090
PhenotypeNot milderNot milderMilderMilderMilderMilderMilderMilderMilderNot milderNot milderMilderMilderMilderMilderMilder