Turner syndrome as a candidate pseudoautosomal disorder

Turner syndrome has been clearly associated with the absence of an X chromosome, but it remains uncertain how this deletion produces either the range of defects regularly associated with the syndrome or those only occasionally seen. It is of particular interest in this regard that the pseudoautosomal portion of the X chromosome has recently been identified as the location for the GM-CSF receptor gene. It is submitted that Turner syndrome, with its hemizygosity for the psuedoautosome, may be an important model for studying the GM-CSF receptor gene as well as other associated genetic material.