Frequent Detection of Y Chromosome Sequences in Japanese Turner's Syndrome by Southern Blot Analysis of Amplified DNA

In Turner's syndrome, the detection of Y chromosome sequences is very important because the presence of the Y chromosome increases the risk of gonadoblastoma induction. Some recent studies have indicated the presence of the Y chromosome in patients with Turner's syndrome, by methods in which the Y chromosome was not detected by a standard cytogenetic method, but these studies concentrated on a part of the Y chromosome or used an insensitive methods. In this study, we approached the detection of Y chromosome sequences by a sensitive method, polymerase chain reaction (PCR) with seven pairs of primers that span the Y chromosome, followed by Southern blot analysis, in eleven Japanese patients with Turner's syndrome. Ten of the eleven patients had some Y chromosome sequences determined by PCR followed by Southern blot. This suggests that most patients with Turner's syndrome have cryptic Y chromosomes, but further studies and long-term follow-up of patients with the Y chromosome are needed to support our data and to clarify the significance of a small amount of Y chromosome.