Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers

Molecular Human Reproduction

Volumn 12, Issue 3, 2006, Pages 209-215

  Ogur, Gonul ^a   Van Assche, Elvire ^a,d   Vegetti, Walter ^b   Verheyen, Greta ^c   Tournaye, Herman ^c   Bonduelle, Maryse ^a   Van Steirteghem, André ^c   Liebaers, Inge ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b UNIVERSITY OF MILAN   (Italy)

^c CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Chromosomes; FISH; Robertsonian translocation; Sperm segregation

Indexed keywords

ANEUPLOIDY; ARTICLE; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIPLOIDY; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; GAMETE; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MALE INFERTILITY; MEIOSIS; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SPERMATOZOON; SPERMATOZOON COUNT; X CHROMOSOME; Y CHROMOSOME;

CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MEIOSIS; SPERMATOZOA; TRANSLOCATION, GENETIC;

ROBERTSONIA;

EID: 33645822951     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gah253     Document Type: Article

References (48)

1. Alves C, Sousa M, Silva J and Borros A (2002) Preimplantation genetic diagnosis using FISH for carriers of Robertsonian translocations: The Portuguese experience. Prenat Diagn 22,1153-1162.
2. Anton E, Blanco J, Egozcue J and Vidal F (2004) Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(qlO;qlO). Hum Reprod 19,1345-1351.
3. Balkan W and Martin RH (1983) Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation. Am J Med Genet 16,169-172.
4. Blanco J, Egozcue J, Clusellas N and Vidal F (1998) FISH on sperm heads allows analysis of chromosome segregation and inter-chromosomal effects in carriers of structural rearrangements: Results in a translocation carrier, t(5;8)(q33;q13). Cytogenet Cell Genet 83,275-280.
5. Boué A and Gallano P (1984) A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 4,45-67.
6. Conn CM, Harper JC, Winston RM and Delhanty JD (1998) Infertile couples with Robertsonian translocations: Preimplantation genetic diagnosis of embryos reveals chaotic cleavage divisions. Hum Genet 102,117-123.
7. Daniel A, Boné A and Gallano P (1986) Prospective risk in reciprocal translocation heterozygotes at amniocentesis as determined by potential chromosome imbalance sizes. Data of the European collaborative prenatal diagnosis centres. Prenat Diagn 6,315-350.
8. Daniel A, Hook EB and Wolf G (1989) Risk of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories. Am J Med Genet 31,14-53.
9. Egozcue S, Blanco J, Vidal F and Egozcue J (2002) Diploid sperm and the origin of triploidy. Hum Reprod 17,5-7.
10. Escudero T, Lee M, Carrel D, Blanco J and Munne S (2000) Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(qlO;qlO) carriers. Prenat Diagn 20,599-602.
11. Estop AM, Cieply K, Munné S and Feingold E (1999) Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Hum Genet 104,412-417.
12. Estop AM, Cieply K, Munné S, Surti U, Wakim A and Feingold E (2000) Is there an interchromosomal effect in reciprocal translocation carriers. Sperm FISH studies. Hum Genet 106,517-524.
13. Frydman N, Romana S, Le Lorc'h M, Vekemans M, Frydman R and Tachdjian G (2001) Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod 16,2274-2277.
14. Gardner RJM and Sutherland GR (1996) Chromosome Abnormalities and Genetic Counseling, 2nd edn. Oxford University Press, Oxford.
15. Geneix A, Schubert B, Force A, Rodet K, Briancon G and Boucher D (2002) Sperm analysis by FISH in a case of t(17;22)(q11;q12) balanced translocation. Hum Reprod 17,325-331.
16. Guttenbach M, Engel W and Schmid M (1997) Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet 100, 1-21.
17. Han TL, Webb GC, Flaherty SP, Correll A, Matthews CD and Ford JH (1992) Detection of chromosome 17-bearing and X-bearing human spermatozoa using fluorescence in situ hybridization. Mol Reprod Dev 33,189-194.
18. Holmes JM and Martin RH (1993) Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridisation. Hum Genet 91,20-24.
19. Honda H, Miharu N, Ohashi Y, Honda N, Hara. T and Ohama K (1999) 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 105,428-436.
20. Honda H, Miharu N, Samura O, He H and Ohama K (2000) Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridisation. Hum Genet 106,188-193.
21. ISCN (1995) Structural Chromosome Rearrangements. In Felix Mitetman (ed.), An International System for Human Cytogenetic Nomenclature. Cytogenet Cell Genet, Switzerland, p. 81.
22. Iwarsson E, Malmgren H, Inzunza J, Ährlund-Richter L, Sjöblom P, Rosenlund B, Fridström M, Hovatta O, Nordenskjöld M and Blennow E (2000) Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers. Prenat Diagn 20,1038-1047.
23. Kruger TF, Mankveld R, Stander FS, Lombard JC, Van der Merwe JP, van Zyl JA and Smith K (1986) Sperm morphologic features as prognostic factor in in vitro fertilization. Fertil Steril 46,118-123.
24. Luciani JM, Guichaoua MR, Mattei A and Morazzani MR (1984) Pachytene analysis of a man with a 13q;14q translocation and infertility. Cytogenet Cell Genet 38,14-22.
25. Martin RH (1988) Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocaction. Hum Genet 80,357-361.
26. Martini E, van Bergh AR, Coonen E, Die-Smulders CEM, Hopman AHN, Ramaekers FCS and Geraedts JPM (1998) Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH. Hum Genet 102,157-165.
27. Mennicke K, Diercks P, Schlieker H, Bals-Pratsch M, al Hasani S, Diedrich K and Schwinger E (1997) Molecular cytogenetic diagnostics in sperm. Int J Androl 20,11-19.
28. Mercier S, Morel F, Fellman F, Roux C and Bresson JL (1998) Molecular analysis of the chromosomal equipment in spermatozoa of a 46,XY,t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridisation. Hum Genet 102,446-451.
29. Morel F, Roux C and Bresson J-L (2001) FISH analysis of the chromosomal status of spermatozoa from three men with 45,XY,der (13;14)(q10;q10) karyotype. Mol Hum Reprod 7,483-488.
30. Navarro J, Vidal F, Benet J, Templado C, Marina S and Egozcue J (1991) XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation. Hum Reprod 6,376-381.
31. Nielsen J and Wohlert M (1991) Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. Hum Genet 87,81-83.
32. Ogawa S, Araki S, Araki Y, Ohno M and Sato I (2000) Chromosome analysis of human spermatozoa from an oligoasthenozoospermic carrier for a 13;14 Robertsonian translocation by their injection into mouse oocytes. Hum Reprod 15,1136-1139.
33. Oliver-Bonet M, Navarro J, Codina-Pascual M, Carrera M, Egozeue J and Benet J (2001) Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei. Eur J Hum Genet 9,395-403.
34. Pellestor F (1990) Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of the literature. Hum Genet 85,49-54.
35. Pellestor F, Sèle B and Jalbert H (1987) Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 76,116-120.
36. Pellestor F, Imbert I, Andréo B and Lefort G (2001) Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridisation and primed in-situ labelling techniques. Hum Reprod 16,1155-1164.
37. Rosenmann A, Wahrman J, Richler C, Madgar I, Weissenberg R and Chaki R (1985) Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet 39,19-29.
38. Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D and Sele B (1995) Sperm nuclei analysis of a Robertsonian T (14q21q) carrier, by FISH, using three plasmids and two YAC probes. Hum Genet 96,655-660.
39. Scriven PN, Flinter FA, Braude PR and Ogilvie CM (2001) Robertsonian translocations-reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 16,2267-2273.
40. Syme RM and Martin RH (1992) Meiotic segregation of a 21;22 Robertsonian translocation. Hum Reprod 7,825-829.
41. Templado C, Vidal F, Navarro J, Marina S and Egozcue J (1984) Meiotic studies and synaptonemal complex analysis in two infertile males with a 13/14 balanced translocation. Hum Genet 67,162-165.
42. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A and Liebaers I (1996) Cytogenetics of infertile men. Hum Reprod 11,1-24 [discussion 25-6].
43. Van Assche E, Staessen C, Vegetti W, Bonduelle M Vandervorst M, Van Steirteghem A and Liebaers I (1999) Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Mol Hum Reprod 5,682-690.
44. Van Hummelen P, Manchester D, Lowe X and Wyrobek AJ (1997) Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10) (p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. Am J Hum Genet 61,651-659.
45. Vegetti W, Van Assche E, Frias A, Verheyen G, Bianchi MM, Bonduelle M, Liebaers I and Van Steirteghem A (2000) Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridisation in infertile men. Hum Reprod 15,351-365.
46. Vidal F, Templado C, Navarro J, Marina S and Egozcue I (1982) Meiotic and synaptonemal complex studies in a 14/21 translocation carrier. Int J Androl 5,21-26.
47. Williams BJ, Bellenger CA, Malter HE, Bishop F, Tucker M, Zwingman TA and Hassold TJ (1993) Nondisjuntion in human sperms: Results of fluorescence in situ hybridization studies using two and three probes. Hum Mol Genet 2,1929-1936.
48. World Health Organization (1999) WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interaction, 4th edn. Cambridge University Press, Cambridge.