The occurrence of gonadal neoplasia in phenotypic females harboring dysgenetic gonads and Y chromosome material is well known. The precise determinants for oncogenesis in these subjects remain enigmatic. Assuming that the Y chromosome is the culprit, it is not possible at this time to identify the portion of the Y which predisposes to malignancy. Diligent search for Y chromosome material is mandatory in this group of patients with gonadal dysgenesis. However, the clinician is confronted with two dilemmas: 1) a minority population of cells with a Y chromosome in a putative 45X monosomic could remain undetectable despite careful and repeated cytogenetic examinations of various tissues, and 2) a minute chromosomal fragment suspected to be Y may remain unidentifiable with current cytogenetic techniques. Application of modern molecular biology to clinical medicine has opened new avenues to resolve these dilemmas. The purpose of this article is : 1) to reexamine the spectrum of Y aneuploidy leading to gonadal dysgenesis, tumor formation, and the inherent clinical dilemmas; 2) to review the molecular biology of the Y chromosome and the Y-specific DNA probes; and 3) to prove that these Y probes may serve as powerful tools for the resolution of the clinical dilemmas.
ASJC Scopus subject areas
- Obstetrics and Gynecology