“…Maternal UPD has been reported in Herlitz junctional epidermolysis bullosa [Pulkkinen et al, 1997;Takizawa et al, 1998], insulin-dependent diabetes mellitus [Field et al, 1998], developmental delay [Rothlisberger et al, 2001], and ChediakHigashi syndrome [Dufourcq-Lagelouse et al, 1999]. Paternal UPD has been described in pycnodysostosis [Gelb et al, 1998], Herlitz junctional epidermolysis bullosa [Takizawa et al, 1998[Takizawa et al, , 2000, retinitis pigmentosa [Rivolta et al, 2002], retinal dystrophy [Thompson et al, 2002] and congenital insensitivity to pain with anhidrosis [Miura et al, 2000;Indo et al, 2001]. UPD can be complete isodisomy [Dufourcq-Lagelouse et al, 1999;Miura et al, 2000], or partial isodisomy [Rivolta et al, 2002], with or without heterodisomy.…”