Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis
| Autor: | E Hatchwell |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1996 |
| Předmět: |
X Chromosome
Centromere Chromosomal translocation Biology Translocation Genetic Genetics medicine Humans Genetics (clinical) Pigmentation disorder X chromosome Sex Chromosome Aberrations Autosome Models Genetic Mosaicism Breakpoint Chromosome Mapping medicine.disease Phenotype Diploidy Female Ploidy Pigmentation Disorders Research Article |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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