PCR-Based Detection Of Occult Y Chromosome Sequences In Turner Subjects.

ABSTRACT

Two hundred and sixty three patients with clinically suspected gonadal dysgenesis were analyzed cytogenetically using banded metaphase chromosomes. There were 61 cases exhibiting karyotypic changes; of these 28 showed 45, X and the rest were largely mosaics. The employment of FISH proved helpful to detect some of the unrecognizable chromosomal changes in selected cases. PCR analysis conducted with eleven sets of primers from the Y chromosome of 36 patients and 35 normal healthy individuals revealed the usefulness of the molecular investigations in conjunction with cytogenetic analysis. In conclusion, the application of molecular techniques to detect low level mosaicism allowed better management of the patients with dysgenesis of the gonads.