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

Giandomenico Palka, L. Stuppia, P. Guanciali Franchi, F. Chiarelli, R. Fischetto, P. Borrelli, A. Giannotti, G. Fioretti, M. M. Rinaldi, R. Mingarelli, G. A. Rappold, G. Calabrese

Research output: Contribution to journalArticle

Abstract

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 deformity was observed. These clinical data indicated a genotype-phenotype correlation between haploinsufficiency of SHOX, and short stature and skeletal abnormalities.

Original languageEnglish
Pages (from-to)449-453
Number of pages5
JournalClinical Genetics
Volume57
Issue number6
DOIs
Publication statusPublished - 2000

Keywords

  • Haploinsufficiency
  • Leri-Weill dyschondrosteosis
  • SHOX
  • Turner syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Palka, G., Stuppia, L., Guanciali Franchi, P., Chiarelli, F., Fischetto, R., Borrelli, P., Giannotti, A., Fioretti, G., Rinaldi, M. M., Mingarelli, R., Rappold, G. A., & Calabrese, G. (2000). Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. Clinical Genetics, 57(6), 449-453. https://doi.org/10.1034/j.1399-0004.2000.570609.x