caa a22 4500 445816945 CHVBK 20180317145231.0 cr unu---uuuuu 170323e20110701xx s 000 0 eng 10.1007/s10815-011-9560-6 doi (NATIONALLICENCE)springer-10.1007/s10815-011-9560-6 Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14) [Elektronische Daten] [Manel Mahjoub, Meriem Mehdi, Sonia Brahem, Hatem Elghezal, Samira Ibala, Ali Saad] Purpose: To analyse the segregation of a Robertsonian translocation t(13;14) in five male carriers, and to verify a possible inter-chromosomal effect (ICE) of the Robertsonian translocation on chromosomes 18, X, and Y. Methods: The spermatozoa of these patients (n = 5) and of 15 donors with normal semen parameters and 46,XY karyotype were analysed using triple colour FISH with locus specific probes for chromosomes 13, 14, and 21 and by triple colour FISH for chromosomes X, Y, and 18. Results: The frequency of balanced spermatozoa resulting from alternate segregation varied between 62.16% and 81.70% with a mean of 71.5%. The rates of unbalanced spermatozoa resulting from adjacent segregation varied between 13.4% and 25.1% with a mean of 18.26%. Triple colour FISH X-Y-18 showed a significant increase in disomy frequencies of these chromosomes in comparison with controls, indicating an ICE. Conclusion: In spite of the high number of normal/balanced frequencies, there remain many unbalanced spermatozoa resulting from adjacent mode of segregation. This raises the question of the unbalanced chromosomal risk for the offspring of 45,XY, t(13;14) males and the importance of the genetic counselling prior to ICSI or IVF treatment for couples where the male is a Robertsonian translocation carrier. Springer Science+Business Media, LLC, 2011 FISH nationallicence Meiotic segregation nationallicence Robertsonian translocation nationallicence Spermatozoa nationallicence Mahjoub Manel Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut Mehdi Meriem Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut Brahem Sonia Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut Elghezal Hatem Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut Ibala Samira Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut Saad Ali Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/7(2011-07-01), 607-613 1058-0468 28:7<607 2011 28 10815 https://doi.org/10.1007/s10815-011-9560-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-011-9560-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mahjoub Manel Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut NATIONALLICENCE 700 1- Mehdi Meriem Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut NATIONALLICENCE 700 1- Brahem Sonia Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut NATIONALLICENCE 700 1- Elghezal Hatem Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut NATIONALLICENCE 700 1- Ibala Samira Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut NATIONALLICENCE 700 1- Saad Ali Department of Cytogenetic and Reproductive biology, Farhat Hached, University Teaching Hospital, 4000, Sousse, Tunisia aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/7(2011-07-01), 607-613 1058-0468 28:7<607 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer