[A case of 46, Xp+, Y with gonadal dysgenesis].
A case of 46, Xp+, Y with gonadal dysgenesis is described. The patient was a 14-year-old boy with short status (129 cm) complaint of underdeveloped testicle. IVP and cystourethrogram showed no abnormality. Chromosomal analysis of peripheral lymphocytes revealed 46, Xp+, Y. Histological examination of the specimen obtained by testicular biopsy revealed an immature tubule-like structure without spermatogenesis. Chromosomal study on his mother who was also short status revealed a karyotype of 46, X, Xp+ in peripheral lymphocytes.
D000293:Adolescent; D000328:Adult; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D008297:Male