Clinical Evidence of Crossover in the SHOX Gene

Abstract

Mutations of the SHOX gene are cause of various genetic growth disorders, ranging from isolated short stature to Leri-Weill Syndrome characterized by short stature, mesomelia and Madelung deformity. We describe a family with a SHOX deletion originally located on the father's Y chromosome but transmitted to daughter's X chromosome by crossover during meiosis. The female index patient presented with disproportionate short stature and mesomelia. Her father, sister and paternal aunt showed disproportionate short stature and mesomelic shortenings of the limbs but her brother was normal stature. Their chromosome analyses were normal but metaphase fluorescence in situ hybridization (FISH) analysis showed a deletion of the SHOX gene on the X chromosome of the index patient, her sister and her paternal aunt but on the Y chromosome of index patient's father. Interestingly, the index patient's brother FISH analysis was normal. This family is presented as clinical evidence of crossover in the SHOX gene.

Keywords

• crossover
• pseudoautosomal region
• shox gene