Table 3 Uniparental disomy associated with an isochromosome defined cytogenetically
KaryotypeUPDMaternal UPDPaternal UPDReference
HIΣHIΣ
46,XX,i(1p),i(1q)11137
46,XN,i(2p),i(2q)21(2q)1 (2q)2 (2p)38, 145
46,XX,i(2p),i(2q)22239, 40
46,XX,i(4p),i(4q)41141
46,X?,i(7p),i(7q)72 (7q)2 (7p)42, 43
45,XX,-8,-8,+psu dic(8)(p23.3) [associated del(8)(p23.3pter)]81144
46,XX,i(9p),i(9q)91145
45,XN,i(13q)132214516, 46–51
45,XN,i(14q)1484124416, 21, 28, 52–59, 129–133
45,XN,i(15q)15556653, 60–68, 134
45,XY,i(21q)211122253, 70–72
45,XN,i(22q)22331173–76
Σ10(+1)19(+3)29118(+4)19
  • H, heterodisomy; I, isodisomy; UPD, uniparental disomy.