Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
AUTOR(ES)
Hatchwell, E
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051863Documentos Relacionados
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