Table 5 Uniparental disomy of parts or of a whole chromosome associated with a complex chromosomal rearrangement (isochromosomes and supernumerary marker chromosomes excluded)
KaryotypeUPDMaternal UPDPaternal UPD
HI?ΣHI?ΣReference
48,XY,+21,+mar28/47,XY,+217(4)(p15;p16)11156
48,XXY,+mar/47,XXY611157
47,XXY611158
47,XXX611159
45,XX,-8,-8,+psu dic(8)(p23.1p23.3) [del(8) (p23.1pter), del(8)(p23.3pter)](8)(p23.1qter)1179
47,XY,+der(15)t(3;15)(p25q11.2)pat151129
45,XY,t(13;15)15 and (13)(q14.3)11160
46,XY,der(1)t(1;16)(p36.3p13.1)/46,XY(16)(p13.1qter)1186
45,XY,psu dic (20;20)(p13p13)/46,XY,psu dic (20;20)(p13p13),+202011155
46,XX,r(21)/46,XX2111161
46,XX,21q-/45,XX,-21/46,XX2111161
47,XX,+der(22),t(11;22),(q23q11)dn(22)(q11.2qter)1189
45,X/46,X,+mar(X)(?p11?q23.3)(X)(?p22.11?q23.3)1191
45,X/46,X,r(X)(?p21?q13.1)(X)(?p21?q13.1)1192
45,X/46,X,r(X)(?p22.11?q23.3)(X)(?p22.11?q23.3)1191
45,X/46,X,del(X)(q21.3qter)/46,X,r(X)(X)(pterq21.3)1190
45,X,t(X;Y)(p22.3p11)(X)(p22.3qter)1193
Σ55101427
  • H, heterodisomy; I, isodisomy; UPD, uniparental disomy.