Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.

@article{Palka2000ShortAR,
  title={Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.},
  author={Giandomenico Palka and Liborio Stuppia and Paolo Guanciali Franchi and Francesco G Chiarelli and Rira Fischetto and Patrizia Borrelli and Aldo Giannotti and Gennaro Fioretti and Maria Michela Rinaldi and Rita Mingarelli and Gudrun A Rappold and Giuseppe Calabrese},
  journal={Clinical genetics},
  year={2000},
  volume={57 6},
  pages={449-53}
}
Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described. In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-containing gene. Ten patients had short stature and one disproportionate (mesomelic) normal stature, while the last one had normal stature. Skeletal abnormalities, including shortened ulna, were detected in nine subjects, and in six of them Madelung… CONTINUE READING