Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation.
We have studied the meiotic segregation of a reciprocal translocation t(5;7)(q21;q32) in a male carrier, using the human sperm-hamster oocyte fusion technique and the whole chromosome painting. A total of 296 sperm complements were analysed by dual chromosome painting. The frequencies of alternate, adjacent-1, adjacent-2 and 3:1 segregation were 49.7%, 32.4%, 16.2% and 1.7% respectively. Aneuploidy frequencies for chromosomes not involved in the translocation were determined by FISH on decondensed sperm heads using probes from chromosomes X, Y, 6, 18 and 21. A total of 20,118 spermatozoa was analysed, 10,201 by two-colour FISH (probes for chromosomes 6 and 21) and 9917 by three-colour FISH (probes for chromosomes X, Y, and 18). There was no evidence of an interchromosomal effect, since disomy frequencies were within the range of normal controls.
Cifuentes
P
P
Unitat de Biologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Spain. biolmed@cc.uab.es
Navarro
J
J
Blanco
J
J
Vidal
F
F
Míguez
L
L
Egozcue
J
J
Benet
J
J
D000818:Animals; D002467:Cell Nucleus; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D006224:Cricetinae; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D013094:Spermatozoa; D014178:Translocation, Genetic