Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma

G. S. Khodr, G. D. Cadena, T. C. Ong and T. M. Siler-Khodr

A 5-year-old girl was discovered to have an abnormal karyotype with a translocation involving the Y chromosome. The primary complaint was slight physical growth retardation. Cytogenetic and endocrinologic evaluations were performed. The chromosomal complement exhibited a mosaicism: 45,X,t(Y;18)(q11;p11)/45,X0. The gonads of this patient were typical streaks containing no ova or follicles. A gonadoblastoma was present bilaterally.