Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y.
BACKGROUND
It is still unclear if a recurrence risk would exist in fathers of an aneuploid offspring of paternal origin. We have studied disomy frequencies in spermatozoa from fathers having Klinefelter syndrome (KS) offspring or miscarriages. The effect of paternal age on sperm disomy percentages is also analysed.


METHODS
Parental origin of 17 KS patients was carried out by amplification of X chromosome polymorphisms. Spermatozoa from their fathers were studied by multicolour fluorescent in situ hybridisation (FISH) using probes for chromosomes 6, 13, 18, 21, 22, X and Y.


RESULTS
In 53% of KS cases studied the additional X chromosome was of paternal origin. The paternally transmitted KS group of fathers showed significantly higher frequencies for XY disomy sperm as compared to fathers of the maternal-origin group. A correlation between paternal age and XY disomy frequencies was only found in the paternally derived cases. In contrast, similar disomy frequencies for all autosomes analysed were found in both groups of fathers.


CONCLUSIONS
XY disomy frequencies increase with advancing paternal age only in fathers with paternally inherited KS offspring.
Arnedo
Núria
N
Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
Templado
Cristina
C
Sánchez-Blanque
Yolanda
Y
Rajmil
Osvaldo
O
Nogués
Carme
C
D000328:Adult; D000782:Aneuploidy; D020223:Chromosome Painting; D002877:Chromosomes, Human / Q000235:genetics*; D002904:Chromosomes, Human, 21-22 and Y / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D015342:DNA Probes; D005220:Fathers; D005820:Genetic Testing; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010331:Paternal Age; D013094:Spermatozoa / Q000648:ultrastructure
D015342:DNA Probes