Table 1 Segmental uniparental disomy associated with a cytogenetically normal karyotype
KaryotypeUPD (segment)HIΣHIΣ?Associated AR inherited disorderReference
46,X?(1)(p31)11Leber amaurosis96
46,XX(1)(p22.1)11Stargardt disease97
46,XY(1)(p11.2->qter)11Hutchinson–Gilford progeria98
46,XX(1)(q22->qter)11Hutchinson–Gilford progeria98
46,XY(2)(p12p11.2)11Congenital hypothyroidism99
46,XX(2)(p16)113
46,XX(2)(q37.3->qter)11Hyperoxaluria type I100
46,XX(3)(q21.3->qter)11CGD ID101
46,XX4pter->p16.111Ellis van Creveld12
46,X?(4p)1×IDIDMOAD4
46,XY(4)(q21q35)11Abetalipoproteinaemia5
46,XX5q3211Netherton syndrome102
46,XX5q32->qter11103
46,XX(6)(p21.3)1121-OH-Deficiency6
46,XY(6)(q24->qter)117
46,XX6q25->qter1SCA17104
46,XY7q21->qter11Cystic fibrosis105
46,XX(7)(q32qter)118
46,XX7q32.3->qter11106
46,X?7q11Cystic fibrosis107
46,X?7q11108
46,X?mos (11)(p15->pter)*95
46,XN11p15.11 (mos)113
46,XX11q23.3->qter1109
46,XY14q12-qter11110
46,X?(14)(q12q24.3)1110
46,XX14q23.3->qter11111
46,XY(15)(q12q13)11112
46,XY17q25->qter1113
46XY20q1114
46,XXXq27->qter)1111
Σ417215†53
  • AR, autosomal resessive; H, heterodisomy; I, isodisomy; UPD, uniparental disomy

  • *Approximately 20% of cases with Wiedemann–Beckwith syndrome; † +1× mosaicism.