Leiden University Scholarly Publications

Kant, S.G.; Broekman, S.J.; Wit, C.C. de; Bos, M.; Scheltinga, S.A.; Bakker, E.; ... ; Losekoot, M. 2013

Phenotypic characterization of patients with deletions in the 3 '-flanking SHOX region

Article / Letter to editor

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

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

Article / Letter to editor

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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... Show moreContext: 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. Show less