Cytogenetic and endocrine findings in a female with 45,X,t(y;18) (p11;p11)

A 23-year-old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45,XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45,X,t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45,X,t(Y;18)/46,XY mosaicism.