Table 4

Uniparental disomy of parts or of a whole chromosome associated with a complex chromosomal rearrangement (isochromosomes excluded)

KaryotypeUPDMaternal UPDPaternal UPDReference
HI?ΣHI?Σ
47,XX,+r(6)/46,XX611 79
47,XX,UPD(7)mat,+r(7)pat/46,XX711 80
45,XX,−8,−8,+psu dic(8)(p23.1p23.3),del(8)(p23.1pter), del(8)(p23.3pter))(8)(p23.1qter)11 81
46,XN/47,XN,+idic(15)15257112 82–87
46,XY,der(1)t(1;16)(p36.3;p13.1)/46,XY(16)(p13.1qter)11 88
45,XY,−20,−20,ter rea (20;20)(p13p13)/47,XY,+20 (associated homozygous del(20)(p13pter))(20)(p13qter)11 89
47,XY,+mar(20)(p11.2q11.2/46,XY2011 90
47,XX,+der(22),t(11;22),(q23q11)dn(22)(q11.2qter)11 91
45,X/46,X,del(X)(q21.3qter)/46,X,r(X)(X)(pterq21.3)11 93
45,X/46,X,+mar(X)(?p11?q23.3)(X)(?p22.11?q23.3)11 95
45,X/46,X,r(X)(?p21?q13.1)(X)(?p21?q13.1)11 94
45,X/46,X,r(X)(?p22.11?q23.3)(X)(?p22.11?q23.3)11 95
45,X,t(X;Y)(p22.3p11)(X)(p22.3qter)11 92
Σ74517314
  • H = heterodisomy, I = isodisomy, UPD = uniparental disomy.