Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

ABSTRACT: Hypomelanosis of Ito is a sporadic multisystem disorder known to be associated 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 common factor is the presence of a balanced, constitutional X;autosome translocation, 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.

SUBMITTER: Hatchwell E 

PROVIDER: S-EPMC1051863 | biostudies-other | 1996 Mar

REPOSITORIES: biostudies-other