A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis

Hum Genet. 1991 Mar;86(5):442-4. doi: 10.1007/BF00194630.


A Japanese boy with genital malformation and mixed gonadal dysgenesis is described. The karyotype appeared to be 46,X t(15;Y)(p13;q11). A comparison of the Q-positive segment on der(15) with that of the paternal Y chromosome revealed, however, the loss of over half of the Q-positive segment from the paternal Y during t(15;Y) translocation. The father had an unusually long Y chromosome that corresponded to a chromosome 18. DNA analysis further revealed a deletion of the non-fluorescent part of the long arm of the Y chromosome spanning interval 5-6.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 15*
  • Gonadal Dysgenesis, Mixed / genetics*
  • Humans
  • Karyotyping
  • Male
  • Translocation, Genetic*
  • Y Chromosome*