Hypomelanosis of Ito is a sporadic multisystem disorder known to be as
sociated in many cases with chromosomal mosaicism. While no particular
pattern is generally evident for the specific chromosomes involved in
such patients, a subgroup of female patients exists in whom the commo
n factor is the presence of a balanced, constitutional X;autosome tran
slocation, with a cytogenetic breakpoint in the pericentromeric region
of the X. It is argued here that the phenotype in these cases results
not from the interruption of X linked genes but from the presence of
mosaic functional disomy of X sequences above the breakpoint.