A male patient with ambiguous external genitalia developed a seminoma in the left inguinal region; his internal genitalia included a streak gonad on the right and a small uterus. Cytogenetic studies demonstrated a dicentric Y chromosome with unstable behavior during cell division, which resulted in 45,X/46,X,dic(Y)/47,X,dic(Y),dic(Y) mosaicism. Immunogenetic studies allowed the identification of the male-determining H-Y antigen on both leukocytes and red cells of the patient. The significance of these results is discussed with respect to recent data on the genetic control of H-Y antigen.
Dicentric Y chromosome in a patient with gonadal dysgenesis and seminoma
PONZIO, Giorgio;DE MARCHI, Mario;CARBONARA, Angelo;
1981-01-01
Abstract
A male patient with ambiguous external genitalia developed a seminoma in the left inguinal region; his internal genitalia included a streak gonad on the right and a small uterus. Cytogenetic studies demonstrated a dicentric Y chromosome with unstable behavior during cell division, which resulted in 45,X/46,X,dic(Y)/47,X,dic(Y),dic(Y) mosaicism. Immunogenetic studies allowed the identification of the male-determining H-Y antigen on both leukocytes and red cells of the patient. The significance of these results is discussed with respect to recent data on the genetic control of H-Y antigen.File in questo prodotto:
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