Atypical gonadal dysgenesis: the role of Yq in determining phenotype and malignancy risk

Two cases of atypical gonadal dysgenesis are described. Phenotypes are attributed to unique karyotypes derived from abnormal zygotic states modified by secondary cell line loss. A model is presented which proposes and defines a regulatory locus of Yq (Y-HT) and comments are made regarding the risk of malignancy in such patients.