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PMID: 16909387 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.

American journal of human genetics ·Vol. 79 ·No. 3 ·2006-09-00 ·Pages 493-9

Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, Willard HF

Abstract

X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosome inactive and half with the maternally derived X chromosome inactive. Significant departures from such a random pattern are hallmarks of a variety of clinical states, including being carriers for severe X-linked diseases or X-chromosome cytogenetic abnormalities. To evaluate the significance of skewed patterns of X inactivation, we examined patterns of X inactivation in a population of >1,000 phenotypically unaffected females. The data demonstrate that only a very small proportion of unaffected females show significantly skewed inactivation, especially during the neonatal period. By comparison with this data set, the degree of skewed inactivation in a given individual can now be quantified and evaluated for its potential clinical significance.

MeSH Terms
Adult Cell Count Female Humans Infant, Newborn Phenotype Stem Cells/cytology X Chromosome Inactivation/genetics
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Amos-Landgraf James M
Department of Genetics, Case Western Reserve Univeristy, Cleveland, USA.
Cottle Amy
Plenge Robert M
Friez Mike
Schwartz Charles E
Longshore John
Willard Huntington F
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/507565
Published
2006-09-00
Epub
2006-00-27
Pages
493-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1559535
Subset
IM
Grants
NIGMS NIH HHS · GM45441 · United States
External Links
PubMed source DOI: 10.1086/507565 PMC Full Text View journal details
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