Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes.
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.
Reproductive Biology Unit, DyOGen, Albert Bonniot Institute, Grenoble University Medical School, La Tronche, France.
S
S
Rousseaux
E
E
Chevret
M
M
Monteil
J
J
Cozzi
R
R
Pelletier
D
D
Delafontaine
B
B
Sèle
D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure*; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002883:Chromosomes, Human, Pair 14; D002891:Chromosomes, Human, Pair 21; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics / Q000473:pathology; D010957:Plasmids; D013094:Spermatozoa / Q000473:pathology*; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome