Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma.
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.
D002675:Child, Preschool; D002902:Chromosomes, Human, 16-18; D004407:Dysgerminoma / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000097:blood / Q000235:genetics*; D014998:Y Chromosome