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Atypical gonadal dysgenesis: the role of Yq in determining phenotype and malignancy risk
Author(s) -
Tyrkus M.,
McCorquodale M.,
Postellon D.,
FrancoSaenz R.
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb01987.x
Subject(s) - gonadal dysgenesis , phenotype , malignancy , biology , karyotype , dysgenesis , genetics , locus (genetics) , y chromosome , gene , endocrinology , chromosome
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.