The Jumping SHOX Gene--crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

Context: During meiosis I, the recombination frequency in the pseudoautosomal region on Xp and Yp (PAR1) in males is very high. As a result, mutated genes located within the PAR1 region can be transferred from the Y-chromosome to the X-chromosome and vice versa.

Patients: Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia.

Results: In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated.

Conclusions: Patients with an abnormality of the SHOX gene should receive genetic counseling as to the likelihood that they may transmit the mutation or deletion to a son as well as to a daughter.