Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
J Clin Endocrinol Metab. 2011 Feb;96(2):E356-9. doi: 10.1210/jc.2010-1505. Epub 2010 Nov 10.
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.
Here we describe three families with SHOX abnormalities resulting in Leri-Weill dyschondrosteosis or Langer mesomelic dysplasia.
In about half of the segregations investigated, a transfer of the SHOX abnormality to the alternate sex chromosome was demonstrated.
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.
在减数分裂 I 过程中，Xp 和 Yp 上的假常染色体区域（PAR1）的重组频率非常高。因此，位于 PAR1 区域内的突变基因可以从 Y 染色体转移到 X 染色体，反之亦然。
我们在这里描述了三个具有 SHOX 异常的家庭，导致 Leri-Weill 软骨发育不全或 Langer 中胚层发育不良。
在所研究的大约一半的分离中，证明了 SHOX 异常向性染色体的转移。
患有 SHOX 基因突变的患者应该接受遗传咨询，了解他们将突变或缺失传递给儿子和女儿的可能性。
