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PMID: 8728687 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

Journal of medical genetics ·Vol. 33 ·No. 3 ·1996-03-00 ·Pages 177-83

Hatchwell E

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.

MeSH Terms
Centromere Chromosome Mapping Diploidy Female Humans Models, Genetic Mosaicism Pigmentation Disorders/genetics Sex Chromosome Aberrations Translocation, Genetic X Chromosome
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Hatchwell E
Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK.
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
DOI
10.1136/jmg.33.3.177
Published
1996-03-00
Pages
177-83
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1051863
Subset
IM
External Links
PubMed source DOI: 10.1136/jmg.33.3.177 PMC Full Text View journal details
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