title: Atypical gonadal dysgenesis: the role of Yq in determining phenotype and malignancy risk.
abstract: 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.
mesh_terms: D000293:Adolescent; D002369:Castration; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications / Q000235:genetics*; D006066:Gonads / Q000601:surgery; D006182:H-Y Antigen / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D009030:Mosaicism; D009369:Neoplasms / Q000517:prevention & control; D010641:Phenotype; D012306:Risk; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics; D014998:Y Chromosome
chemical_list: D006182:H-Y Antigen