Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes

Hum Genet. 1995 Dec;96(6):655-60. doi: 10.1007/BF00210294.

Abstract

The meiotic segregation of chromosomes 14 and 21 was analysed in 1116 spermatozoa from an oligoasthenospermic carrier of a Robertsonian translocation t(14q21q), and in 16,392 spermatozoa from a control donor, using two-colour fluorescence in situ hybridisation (FISH). Two YAC probes (cloned in yeast artificial chromosomes) specific for regions on the long arms of these chromosomes were co-hybridised. Of the spermatozoa, 12% were unbalanced, resulting from adjacent segregations. Chromosomes X, Y and 1 were also simultaneously detected in 1335 spermatozoa from the same carrier. Whereas gonosomal disomy rates were not significantly different from those of the control donors, disomy 1 were slightly but significantly increased to 0.7%. The diploidy rate was also slightly increased to approximately 1% in the translocation carrier.

Publication types

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

MeSH terms

  • Adult
  • Cell Nucleus / ultrastructure*
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 21*
  • Heterozygote*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Oligospermia / genetics
  • Oligospermia / pathology
  • Plasmids
  • Spermatozoa / pathology*
  • Translocation, Genetic*
  • X Chromosome
  • Y Chromosome