Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
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.
Hatchwell
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Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK.
D002503:Centromere; D002874:Chromosome Mapping; D004171:Diploidy; D005260:Female; D006801:Humans; D008957:Models, Genetic; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic; D014960:X Chromosome