Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome.

Turner syndrome is hypothesized to result from haplo-insufficiency of a gene or perhaps multiple genes present on the sex chromosomes; however, the frequent association of mosaicism with deletions of the sex chromosomes prevents establishing useful genotype/phenotype correlations. In this clinical report, we present a male with a de novo, non-mosaic deletion of the Y-chromosome. The phenotype of this patient is unlike any similar cases previously reported in the literature. This patient exhibits many classical clinical features of Turner syndrome including short stature, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment. Detailed molecular characterization of this deleted Y-chromosome could provide important information towards establishing genotype/phenotype correlations in Turner syndrome.