DETECTION OF Y-CHROMOSOME SEQUENCES IN PATIENTS WITH X-CHROMOSOME ABNORMALITIES

The polymerase chain reaction was used to test 18 adults and eight fet uses with numerical or structural X-chromosome abnormalities for the p resence of nine Y-specific loci. Y-chromosomal DNA was detectable in o ne adult patient with X-chromosome mosaicism. This study and previous reports provide evidence to support further screening of patients with X-chromosome abnormalities for the presence of Y-chromosomal DNA sequ ences. Long-term follow-up of patients with Y-chromosomal sequences is required to determine the risk of gonadal neoplasms and other abnorma l phenotypes.