Clinical features in patients 1 and 2.

WNR: within the normal range; SD: standard deviation; and PDA: patent ductus arteriosus.
a Assessed by the gestational age- and sex-matched Japanese reference data from the Ministry of Health, Labor, and Welfare (http://www.e-stat.go.jp/SG1/estat/GL02020101.do).
b Assessed by the age- and sex-matched Japanese reference data..
c In the column summarizing the clinical features of 20 patients with upd(14)pat, the denominators indicate the number of cases examined for the presence or absence of each feature, and the numerators represent the number of cases assessed to be positive for that feature; thus, the differences between the denominators and the numerators denote the number of cases evaluated to be negative for that feature (adopted from reference [2]).
d Polyhydramnios has been identified by 28 weeks of gestation.
e Omphalocele is present in two cases with upd(14)pat and in two cases with epimutations [2].