Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers.
Male carriers of Robertsonian (Rob) translocations can have fertility problems associated with low sperm counts and abnormal sperm morphology. In this study, spermatozoa from 14 Rob translocation carriers, seven der(13;14), two der(13;15), two der(14;15), two der(14;21) and one der(21;22), were tested by fluorescence in-situ hybridization (FISH) for the chromosomes involved, to study meiotic segregation behaviour. It was shown that in each type of Rob translocation, meiotic segregation behaviour is similar, comparable and occurs non-randomly. Most of the spermatozoa results from alternate segregation (range: 76-89.47%). There is, however, still much unbalanced spermatozoa resulting from adjacent segregation mode (range: 10.24-23.41%). These data provide useful information for genetic counselling purposes. Moreover, aneuploidy for chromosomes 13,18, 21, X and Y was studied in five patients and suggested an inter-chromosomal effect.
Ogur
Gonul
G
Center for Medical Genetics, University Hospital, Dutch-Speaking Free University of Brussels, Laarbeeklaan, Belgium.
Van Assche
Elvire
E
Vegetti
Walter
W
Verheyen
Greta
G
Tournaye
Herman
H
Bonduelle
Maryse
M
Van Steirteghem
André
A
Liebaers
Inge
I
D020090:Chromosome Segregation / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D008540:Meiosis / Q000235:genetics; D013094:Spermatozoa / Q000166:cytology / Q000378:metabolism*; D014178:Translocation, Genetic / Q000235:genetics*