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


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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 Name: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.653-658
  • Hacettepe University Affiliated: Yes

Abstract

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.