X-linked recessive inheritance of radial ray deficiencies in a family with four affected males

Creative Commons License

Galjaard R., Kostakoglu N., Hoogeboom J., Breedveld G., van der Linde H., Hovius S., ...More

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.9, no.9, pp.653-658, 2001 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 9
  • Publication Date: 2001
  • Doi Number: 10.1038/sj.ejhg.5200692
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.653-658
  • Hacettepe University Affiliated: Yes


Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.