Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21

J. M. Sulewski, T. P. Dang, S. Ward, R. L. Ladda

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY,+8,+21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young woman showed none of the dysmorphic features associated with either trisomy 8 or trisomy 21. Her XY gonadal dysgenesis was manifested by late developmental problems of amenorrhoea, sexual infatilism, and gonadal neoplasia.

Original languageEnglish (US)
Pages (from-to)321-323
Number of pages3
JournalJournal of Medical Genetics
Volume17
Issue number4
StatePublished - 1980

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Sulewski, J. M., Dang, T. P., Ward, S., & Ladda, R. L. (1980). Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21. Journal of Medical Genetics, 17(4), 321-323.