Abstract
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.
Similar content being viewed by others
References
Nielsen J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from 13 –year incidence study in Arhus, Denmark. Hum Genet. 1991;87:81–3.
Vidal F, Templado C, Navarro J, Marina S, Egoscue J. Meiotic and synaptonemal complexes studies in a 14/21 translocation carrier. Int J Androl. 1982;5:21–6.
Sybenga J. Chromosome structural variants. In: Sybenga J, editor. General cytogenetics. Amsterdam: North-Holland; 1975. p. 165–212.
Egoscue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, et al. Human male infertility: chromosome anomalies, meiotic desorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update. 2000;6:93–105.
Balkan W, Martin RH. Segregation of chromosomes into the spermatozoa of a man heterozygeous for a 14;21 Robertsonian translocation. Am J Med Genet. 1983;16:169–72.
Rousseaux S, Hazzouri M, Pelletier R, Monteil M, Usson Y, Sèle B. Disomy rates for chromosomes 14 and 21 studied by fluorescent in-situ hybridization in spermatozoa from three men over 60 years of age. Mol Hum Reprod. 1998;4:695–9.
Honda H, Miharu N, Ohashi Y, Honda N, Hara T, Ohama K. Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization. Hum Genet. 1999;105:428–36.
Honda H, Miharu N, Samura O, He H, Ohama K. Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization. Hum Genet. 2000;106:188–93.
Frydman N, Romana S, Le Lorc’h M, Vekemans M, Frydman R, Tachjian G. Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod. 2001;16:2274–7.
Moosani N, Pattinson HA, Carter MD, Cox DM, Rademaker AW, Martin RH. Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil Steril. 1995;64:811–7.
Anton E, Blanco J, Egoscue J, Vidal F. Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10). Hum Reprod. 2004;19:1345–51.
World Health Organization. Laboratory manual for the examination of human semen and sperm-cervical mucus interaction. New York: Cambridge University Press; 1999.
Pelloster F, Sèle B, Jalbert H. Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet. 1987;85:116–20.
Ogur G, Van Assche E, Vegetti W, Verheyen G, Tournaye H, Bonduelle M, et al. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod. 2006;12:209–15.
Escudero T, Lee M, Carrel D, Blanco J, Munne S. Analysis of chromosomes abnormalities in sperm and embryos from two 45, XY, t(13;14)(q10;q10) carriers. Prenat Diagn. 2000;20:599–602.
Martin RH. Cytogenetic analysis of sperm from a male heterozygous for a 13 ;14 Robertsonian translocation. Hum Genet. 1988;80:357–61.
Ogawa S, Araki S, Araki Y, Ohno M, Sato I. Chromosome analysis of human spermatozoa from an oligoasthenozoospermic carrier for a 13;14 Robertsonian translocation by their injection into mouse oocytes. Hum Reprod. 2000;15:1136–9.
Luciani JM, Guichaoua MR, Mattei A, Morazzani MR. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet Cell Genet. 1984;38:14–22.
Morel F, Roux C, Bresson JL. FISH analysis of the chromosomal status of spermatozoa from three men with 45, XY, der (13;14)(q10;q10). Mol Hum Reprod. 2001;7:483–8.
Vegetti W, Van Asseche E, Frias A, Verheven G, Bianchi MM, Bonduelle M, et al. Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum Reprod. 2000;15:351–65.
Luciani JM, Guichaoua MR. L’incidence des anomalies chromosomiques de structure sur la spermatogenèse chez l’homme. Reprod Nutr Dev. 1990;1:95–103.
Vendrell JM, Garcia F, Veiga A, Calderon G, Egozcue S, Egozcue J, et al. Meiotic abnormalities and spermatogenic parameters in severe oligoasthenozoospermia. Hum Reprod. 1999;14:375–8.
Blanco J, Egoscue J, Vidal F. interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei. Hum Genet. 2000;106:500–5.
Guttenbach M, Martinez-Exposito MJ, Michelmann HW, Engel W, Schmid M. Incidence of diploid and disomic sperm nuclei in 45 infertile men. Hum Reprod. 1997;12:468–73.
Estop AM, Cieply K, Munne S, Surti U, Wakim A, Feingold E. Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum Genet. 2000;106:517–24.
Pang MG, Hoegerman SF, Cuticchia AJ, Moon SY, Doncel GF, Acosta AA, et al. Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;14:1266–73.
Rives N, Saint Clair A, Mazurier S, Sibert L, Simeon N, Joly G, et al. Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Hum Genet. 1999;105:266–72.
Author information
Authors and Affiliations
Corresponding author
Additional information
Capsule Despite the high number of normal/balanced frequencies, there remain many unbalanced spermatozoa resulting from adjacent mode of segregation.
Rights and permissions
About this article
Cite this article
Mahjoub, M., Mehdi, M., Brahem, S. et al. Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14). J Assist Reprod Genet 28, 607–613 (2011). https://doi.org/10.1007/s10815-011-9560-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10815-011-9560-6