An Illustrative Case Of Léri-weill Dyschondrosteosis

We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstrated through detection of hemizygosity for microsatellite markdrs SHOX-CA repeat, DXYS10092, DXYS10093 and DXYS10091 localized around the SHOX gene, with retention of paternal alleles in the proband and three of her sisters who had short stature as the only clinical feature. Hemizygosity for these loci was also observed in their mother, who had short stature too. The deletion in the proband was however larger, including locus DXY 10083. The proband's only sister with normal height did not carry the deletion. Family history suggests transmission of the deletion from the proband's maternal great-grandfather to her grandfather via the Y chromosome, and from the grandfather to the proband's mother via the X chromosome after crossing-over in the pseudoautosomal region proximal to the SHOX gene. Copyright © 2008, Sociedade Brasileira de Genética.314839842Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Cormier-Daire, V., SHOX mutations in dyschondrosteosis (Léri-Weill syndrome) (1998) Nat Genet, 19, pp. 67-69Benito-Sanz, S., del Blanco, D.G., Aza-Carmona, M., Magano, L.F., Lapunzina, P., Argente, J., Campos-Barros, A., Heath, K.E., PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands (2006) Hum Mutat, 27, p. 1062Benito-Sanz, S., del Blanco, D.G., Huber, C., Thomas, N.S., Aza-Carmona, M., Bunyan, B., Maloney, V., Campos-Barros, A., Characterization of SHOX deletions in Léri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots (2006) Am J Hum Genet, 79, pp. 409-412Benito-Sanz, S., Thomas, N.S., Huber, C., Gorbenko del Blanco, D., Aza-Carmona, M., Crolla, J.A., Maloney, V., Campos-Barros, A., A novel class of pseudoautosomal region 1 deletions downstream of SHOX Is associated with Léri-Weill dyschondrosteosis (2005) Am J Hum Genet, 77, pp. 533-544Clement-Jones, M., Schiller, S., Rao, E., Blaschke, R.J., Zuniga, A., Zeller, R., Robson, S.C., Strachan, T., The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome (2000) Hum Mol Genet, 9, pp. 695-702Ellison, J.W., Wardak, Z., Young, M.F., Gehron Robey, P., Laig-Webster, M., Chiong, W., PHOG, a candidate gene for involvement in the short stature of Turner syndrome (1997) Hum Mol Genet, 6, pp. 1341-1347Filatov, D.A., Gerrard, D.T., High mutation rates in human and ape pseudoautosomal genes (2003) Gene, 317, pp. 67-77Fukami, M., Kato, F., Tajima, T., Yokoya, S., Ogata, T., Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3′ region: Implication for the downstream enhancer (2006) Am J Hum Genet, 78, pp. 167-170Henry, A., Thorburn, M.J., Madelung's deformity. 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Magnetic Field Amplification in Galaxy Clusters and its Simulation

We review the present theoretical and numerical understanding of magnetic field amplification in cosmic large-scale structure, on length scales of galaxy clusters and beyond. Structure formation drives compression and turbulence, which amplify tiny magnetic seed fields to the microGauss values that are observed in the intracluster medium. This process is intimately connected to the properties of turbulence and the microphysics of the intra-cluster medium. Additional roles are played by merger induced shocks that sweep through the intra-cluster medium and motions induced by sloshing cool cores. The accurate simulation of magnetic field amplification in clusters still poses a serious challenge for simulations of cosmological structure formation. We review the current literature on cosmological simulations that include magnetic fields and outline theoretical as well as numerical challenges.Comment: 60 pages, 19 Figure