Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
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ABSTRACT:
SUBMITTER: Hatchwell E
PROVIDER: S-EPMC1051863 | biostudies-other | 1996 Mar
REPOSITORIES: biostudies-other
Publications
Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
Journal of medical genetics 19960301 3
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 ...[more]
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