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Case Reports
. 2009 Jul;10(5):478-81.
doi: 10.1038/gene.2009.37. Epub 2009 May 21.

46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE

C M Cooney  1 , G R Bruner, T Aberle, B Namjou-Khales, L K Myers, L Feo, S Li, A D'Souza, A Ramirez, J B Harley, R H Scofield
Affiliations
Case Reports

46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE

C M Cooney et al. Genes Immun. 2009 Jul.

Abstract

Systemic lupus erythematosus (SLE) disproportionately affects women. Recent work demonstrates that men with Klinefelter's syndrome (47,XXY men) have a similar risk of developing SLE as do women. We present an unusual African-American family with two SLE-affected individuals in which one of the patients with SLE also has Turner's syndrome (46,X,del(X)(q13)). Although not definitive, this family raises interesting questions regarding the function of genes located on the X chromosome in the development of SLE. The paucity of case reports documenting the overlap of SLE with Turner's syndrome while there is an association of male SLE with Klinefelter's syndrome suggests a lower risk of SLE in women with Turner's syndrome. These observations are consistent with a gene dose effect at X with two X chromosomes (46,XX or 47,XXY) conferring higher risk and one X chromosome (46,XY or 45,XO) conferring lower risk of SLE.

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Figures

Figure 1A
Figure 1A
Karyotype of Turner's syndrome/SLE subject demonstrating 46,X,del(X)(q13).
Figure 1B
Figure 1B
Ideogram of 46,X,del(X)(q13) demonstrating area of terminal chromosomal long-arm deletion and location of 3 lupus-linked genes: CD40LG, IRAK1, MECP2.
Figure 2
Figure 2
Fluorescence in situ hybridization (FISH) of Turner's syndrome/SLE overlap participant demonstrating 46,X,del(X)(q13).
See this image and copyright information in PMC

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