Segregation of chromosomes in spermatozoa of four Hungarian translocation carriers.
OBJECTIVE
To determine the segregation pattern of the translocated chromosomes in spermatozoa of human males with translocations.


METHODS
Retrospective case-control study.


METHODS
Hospital-based genetic laboratory for reproductive biology.


METHODS
A carrier with Y-autosome reciprocal translocation, two with autosome-autosome reciprocal translocations, and one with Robertsonian translocation.


METHODS
Blood sample and sperm sample collection from each translocation carrier.


METHODS
Fluorescence in situ hybridization on lymphocyte slides to characterize each translocation case. Fluorescence in situ hybridization with specific DNA probes for each of the sperm samples to characterize the chromosomes involved in the rearrangement and to evaluate the possible interchromosomal effect for chromosomes 18, X, and Y.


RESULTS
Each translocation carrier showed a specific mode of segregation pattern of the translocated chromosomes, confirming the dependence on chromosomes involved in the translocation. The highest frequency from alternate segregation was with the carrier of Robertsonian translocation (90.9%), and the lowest was with the carrier of Y-autosome translocation (29.7%). No evidence of an interchromosomal effect for chromosomes 18, X, and Y were detected.


CONCLUSIONS
Depending on the rate of the genetically normal and abnormal segregation modes, we can evaluate the chance of having a healthy proband. These results ensure more accurate genetic counseling for patients in assisted reproduction centers.
Kékesi
Anna
A
Department of Obstetrics and Gynecology, Medical Health Center, Budapest, Hungary.
Erdei
Edit
E
Török
Miklós
M
Drávucz
Sándor
S
Tóth
András
A
D000328:Adult; D020090:Chromosome Segregation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006814:Hungary; D008297:Male; D013094:Spermatozoa / Q000502:physiology*; D014178:Translocation, Genetic / Q000235:genetics*