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

Kant, S.G.; Kamp, H.J. van der; Kriek, M.; Bakker, E.; Bakker, B.; Hoffer, M.J.V.; ... ; Breuning, M.H. (2011)

Article / Letter to editor

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.

• All authors: Kant, S.G.; Kamp, H.J. van der; Kriek, M.; Bakker, E.; Bakker, B.; Hoffer, M.J.V.; Bunderen, P. van; Losekoot, M.; Maas, S.M.; Wit, J.M.; Rappold, G.; Breuning, M.H.
• Date: 2011-02-28
• Volume: 96
• Issue: 2
• Pages: E356 - 9
• DOI: doi:10.1210/jc.2010-1505