PURPOSE: To determine the percentage of unbalanced spermatozoa and an interchromosomal effect in two carriers of balanced translocations t(13;15)(q32;q26) and t(13;15)(q32;p11.2). METHODS: Sperm nuclei analysis by fluorescent in situ hybridization for detection of percentage of unbalanced spermatozoa and sperm with disomy of chromosomes X, Y, 8, 18, 21 and diploidy. RESULTS: The incidence of unbalanced spermatozoa was 50.5 % and 44.6 % in patient 1 (P1) and patient 2 (P2), respectively. Partial disomy of chromosome 13 was detected in 13.4 % and 21.3 % of sperm in P1 and P2, respectively. The unbalanced karyotype der(15)t(13;15) was found previously in a son of P1 and in two adult relatives, and prenatally in the family of P2. This demonstrates a high risk of delivering an affected offspring. Significantly increased frequencies of chromosomes 8, 18, X and XY disomy and diploidy were observed in P2, which might either indicate an interchromosomal effect or be related to his asthenoteratozoospermia. CONCLUSIONS: Since the proportions of unbalanced spermatozoa and the risk of delivering an affected offspring are high, prenatal or preimplantation genetic diagnosis is recommended for such patients.

Department of Medical Genetics University Hospital Brno 625 00 Brno Czech Republic

Zobrazit více v PubMed

Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Aarhus, Denmark. Hum Genet. 1991;87:81–83. doi: 10.1007/BF01213097. PubMed DOI

Daniely M, Aviram-Goldring A, Barkai G, Goldman B. Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod. 1998;13(4):805–809. doi: 10.1093/humrep/13.4.805. PubMed DOI

Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A, et al. Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic. Ann Hum Genet. 1975;39(2):231–254. doi: 10.1111/j.1469-1809.1975.tb00126.x. PubMed DOI

Chandley AC, Seuánez H, Fletcher JM. Meiotic behavior of five human reciprocal translocations. Cytogenet Cell Genet. 1976;17(2):98–111. doi: 10.1159/000130694. PubMed DOI

Morel F, Douet-Guilbert N, Bris MJ, Herry A, Amice V, Amice J, et al. Meiotic segregation of translocations during male gametogenesis. Review. Int J Androl. 2004;27:200–212. doi: 10.1111/j.1365-2605.2004.00490.x. PubMed DOI

Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J. Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res. 2005;111:281–290. doi: 10.1159/000086901. PubMed DOI

Roux C, Tripogney C, Morel F, Joanne C, Fellmann F, Clavequin MC, et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Review. Cytogenet Genome Res. 2005;111(3–4):291–296. doi: 10.1159/000086902. PubMed DOI

Martin RH, Hultén M. Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature. Hereditas. 1993;118(2):165–175. doi: 10.1111/j.1601-5223.1993.00165.x. PubMed DOI

Escudero T, Abdelhadi I, Sandalinas M, Munne S. Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril. 2003;79(3):1528–1534. doi: 10.1016/S0015-0282(03)00252-8. PubMed DOI

Vozdova M, Kasikova K, Oracova E, Prinosilova P, Rybar R, Horinova V, Gaillyova R, Rubes J. The effect of the swim-up and hyaluronan-binding methods on the frequency of abnormal spermatozoa detected by FISH and SCSA in carriers of balanced chromosomal translocations. Hum Reprod. 2012;27(3):930-7. PubMed

Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction. 2001;121(5):655–666. doi: 10.1530/rep.0.1210655. PubMed DOI

Anton E, Blanco J, Egozcue J, Vidal F. Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10) Hum Reprod. 2004;19:1345–1351. doi: 10.1093/humrep/deh232. PubMed DOI

Machev N, Gosset P, Warter S, Treger M, Schillinger M, Viville S. Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidence of an interchromosomal effect. Fertil Steril. 2005;84:365–373. doi: 10.1016/j.fertnstert.2005.03.026. PubMed DOI

Chen Y, Huang J, Liu P, Qiao J. Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations. J Assist Reprod Genet. 2007;24(9):406–411. doi: 10.1007/s10815-007-9137-6. PubMed DOI PMC

Anton E, Vidal F, Blanco J. Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers. Syst Biol Reprod Med. 2011;57(6):268–278. doi: 10.3109/19396368.2011.633682. PubMed DOI

Kirkpatrick G, Ferguson KA, Gao H, Tang S, Chow V, Yuen BH, et al. A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes. Hum Reprod. 2008;23(7):1679–1683. doi: 10.1093/humrep/den126. PubMed DOI

World Health Organization. WHO laboratory manual for the examination and processing of human semen. 5th edition. World Health Organization, Geneva, Switzerland ISBN 97892 4154778 9; 2010.

Rubes J, Vozdova M, Oracova E, Perreault SD. Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res. 2005;111:229 -236. PubMed

Vozdova M, Oracova E, Horinova V, Rubes J. Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18). Hum Reprod. 2008;23(3):581-8. PubMed

Babu KA, Verma RS. Structural and functional aspects of nucleolar organizer regions (NORs) of human chromosomes. Int Rev Cytol. 1985;94:151–176. doi: 10.1016/S0074-7696(08)60396-4. PubMed DOI

Cans C, Cohen O, Lavergne C, Mermet MA, Demongeot J, Jalbert P. Logistic regression model to estimate the risk of unbalanced offspring in reciprocal translocations. Hum Genet. 1993;92(6):598–604. doi: 10.1007/BF00420946. PubMed DOI

Schinzel A. Catalogue of unbalanced chromosome aberrations in man. 2. Berlin: Walter de Gruyter; 2001.

Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, et al. Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl. 2005;28:372–379. doi: 10.1111/j.1365-2605.2005.00571.x. PubMed DOI

Vegetti W, Assche E, Frias A, Verheyen 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;15:351–365. doi: 10.1093/humrep/15.2.351. PubMed DOI