A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.

@article{Buchanan1976AMU,
  title={A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.},
  author={Philip D. Buchanan and Herman E. Wyandt and A Joseph D'ercole and Kathleen W. Rao and M L Hartsell},
  journal={Cytogenetics and cell genetics},
  year={1976},
  volume={17 1},
  pages={42-50}
}
A patient with a mitotically unstable dic(Y)(p11) chromosome is reported. Physical examination revealed a small penis with severe hypospadia, undescended testes, rudimetary vagina, uterus, left fallopian tube, and no stigmata of Turner syndrome. Longitudinal chromosome studies over a four-year period, including blood, skin, foreskin, and testicular tissue, revealed 45,X/46,X,dic(Y)(p11)/46,X,del(dic Y) mosaicism. The proportions of these cells varied in the different tissues, and only 45,X and… CONTINUE READING