Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite

An infant with ambiguous genitalia, uterus, tubes, and bilaterally undescended testes was found to have an unstable dicentric Yq chromosome, and 45,X/46,X,dic i(Yq)/47,X,i(Yq) i(Yq) mosaicism in lymphocytes and fibroblasts. A few other minor cell lines were found in peripheral blood lymphocytes. These findings indicate a high degree of mitotic instability in the centromere of the dicentric i(Yq) chromosome in this patient.