Table 1

Single case reports of autosomal uniparental disomy associated with a supernumerary marker chromosome

Maternal UPDPaternal UPD
KaryotypeUPDHI?ΣHI?ΣReference
H=heterodisomy, I=isodisomy, UPD=uniparental disomy.
47,XX,+der(1)(p21.1q12)/46,XX1114
47,XX,+r(6)/46,XX6115
47,XX,UPD(7)mat,+r(7)pat/46,XX7116
47,XX,+r(9)(p10p12)/46,XX9117
47,XX,der(10)(:p12.31>q11.1)/46,XX10118
47,XX,+der(12)(:p11>q11:)/46,XX12119
46,XN/47,XN,+idic(15)1534711133, 12, 13, 15–19
47,XX,der(X)/46,XX151114
47,XY,+der(20)(p11.2q11.2)/46,XY201110
47,XX,+der(22),t(11;22),(q23q11)dn(22)(q11.2qter)1111
825151214