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Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome

Turner syndrome (TS) results from whole or partial monosomy X and is mediated by haploinsufficiency of genes that normally escape X-inactivation. Although a 45,X karyotype is observed in half of all TS cases, the most frequent variant TS karyotype includes the isodicentric X chromosome alone [46,X,i...

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Bibliografiske detaljer
Main Authors: Scott, Stuart A., Cohen, Ninette, Brandt, Tracy, Warburton, Peter E., Edelmann, Lisa
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2916707/
https://ncbi.nlm.nih.gov/pubmed/20570968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq250
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