Gonadal dysgenesis in a patient with an X;3 translocation: case report and review. Issue 3 (June 1980)

• Record Type: Journal Article
• Authors: Carpenter, N J; Say, B; Browning, D
• Is Part Of: Journal of medical genetics. Volume 17:Issue 3(1980)
• Page Start: 216
• Page End: 221
• Publication Date: 1980-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.17.3.216
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.