Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient

We describe a woman with Ullrich-Turner manifestations and a 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization (FISH) and DNA analysis were carried out in order to determine the origin and structure of the marker. FISH showed that the marker was a Y-derived dicentric chromosome. The break point at Yq11 (interval 6) was mapped using Southern blotting and polymeras e chain reaction (PCR), There were no nucleotide alterations in the SRY con served domain. Histological analysis of the gonads showed an ovarian-like s troma with no signs of testicular tissue. These findings indicate that the patient was a mosaic 45,X/46,X,idic(Yp) whose phenotypic expression, includ ing sex determination, appeared to have had more influence from the 45,X ce ll line. (C) 2000 Wiley-Liss, Inc.