X-Linked Recessive Inheritance Of Radial Ray Deficiencies In A Family With Four Affected Males
Tarih
2001Yazar
Galjaard, RJH
Kostakoglu, N
Hoogeboom, JJM
Breedveld, GJ
van der Linde, HC
Hovius, SER
Oostra, BA
Sandkuijl, LA
Akarsu, AN
Heutink, P
Üst veri
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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.