Humangenetik

, Volume 6, Issue 2, pp 131–141

A male pseudohermaphrodite with a dicentric Y chromosome

Autoradiographic study
  • Pierre E. Ferrier
  • Simone A. Ferrier
  • Alexander H. BillJr.
Original Investigations

DOI: 10.1007/BF00297721

Cite this article as:
Ferrier, P.E., Ferrier, S.A. & Bill, A.H. Hum Genet (1968) 6: 131. doi:10.1007/BF00297721

Summary

A 13-year-old male pseudohermaphrodite (mixed gonadal dysgenesis, unilateral testicular differentiation) was found to be a chromosomal mosaic of the 45, XO/46, XY type, the Y chromosome being a symmetrical dicentric chromosome. Presumed Y chromosomes similar to this one have been observed before, but their identification was not supported by autoradiographic data. In the present study the identification of the dicentric as a Y chromosome was supported by observing a relatively late DNA replication during the S period. The differentiation of testicular tissue on one side may be related to the presence of short arm material of the Y chromosome in the genome of the XY dic cells.

Copyright information

© Springer-Verlag 1968

Authors and Affiliations

  • Pierre E. Ferrier
    • 1
  • Simone A. Ferrier
    • 1
  • Alexander H. BillJr.
    • 1
  1. 1.Department of Pediatrics, University of Washingtonand the Children's Orthopedic Hospital and Medical Center (Joan Judson Research Laboratory, and Surgical Service)Seattle
  2. 2.Department of Pediatrics and Children's Orthopedic HospitalUniversity of WashingtonSeattle