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.
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.
Authors: Sarina G Kant; Sander J Broekman; Caroline C de Wit; Marloes Bos; Sitha A Scheltinga; Egbert Bakker; Wilma Oostdijk; Hetty J van der Kamp; Erik W van Zwet; Annemieke H van der Hout; Jan M Wit; Monique Losekoot Journal: PeerJ Date: 2013-02-19 Impact factor: 2.984