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

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

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.9, sa.9, ss.653-658, 2001 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 9 Konu: 9
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1038/sj.ejhg.5200692
  • Sayfa Sayıları: ss.653-658


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.