Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: A comparison of locus-specific probe and whole chromosome painting

Human Reproduction

Volumn 20, Issue 7, 2005, Pages 1850-1854

  Anahory, T ^a   Hamamah, S ^a   Andreo B ^b   Hedon B ^a   Claustres, M ^a   Sarda, P ^a   Pellestor, Franck ^b  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b INSTITUTE OF HUMAN GENETICS   (France)

Author keywords

FISH; Meiotic segregation; Robertsonian translocation; Sperm

Indexed keywords

ACROCENTRIC CHROMOSOME; ADULT; ARTICLE; CASE REPORT; CELL NUCLEUS; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 14; CHROMOSOME TRANSLOCATION 21; CHROMOSOME TRANSLOCATION 22; DISOMY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE PROBE; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HUMAN CHROMOSOME; MALE; RISK ASSESSMENT; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SCORING SYSTEM; SEGREGATION ANALYSIS; SEMEN ANALYSIS; SPERM;

ROBERTSONIA;

EID: 21644439322     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deh886     Document Type: Article

References (34)

1. Acar H, Selman Yildirim M, Cora T and Ceylaner S (2002) Evaluation of segregation patterns of 21;21 Robertsonian translocation along with sex chromosomes and interchromosomal effects in sperm nuclei of carrier by FISH technique. Mol Hum Reprod 63,232-236.
2. Alves C. Sousa M, Silva J and Barros A (2002) Preimplantation genetic diagnosis using FISH for carriers of Robertsonian translocations: the Portuguese experience. Prenat Diagn 22,1153-1162.
3. Anton E, Blanco J, Egozcue J and Vidal F (2004) Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14) (q10;q10). Hum Reprod 19,1345-1351.
4. Balkan W and Martin RH (1983) Chromosome segregation into the spermatozoa of two men heterozygous for different reciprocal translocations. Hum Genet 63,345-348.
5. Boué A and Gallano P A (1984) collaborative study of the segregation of inherited chromosome structural rearragements in 1356 prenatal diagnoses. Prenat Diagn 4,45-67.
6. Conn MC, Harper J, Winston RM and Delhanty JD (1998) Infertile couples with Robertsonian translocations: preimplantation genetic analysis reveals chaotic cleavage divisions. Hum Genet 102,117-123.
7. Daniel A, Hook EB and Wulf G (1989) Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian Laboratories. Am J Med Genet 33,14-53.
8. Durban M, Benet J, Boada M, Fernandez E, Calafell JM, Lailla JM, Sanchez-Garcia JF, Pujol A, Egozcue J and Navarro J (2001) PGD in female carriers of balanced Robertsonian an reciprocal translocations by first polar body analysis. Hum Reprod Update 7,591-602.
9. Escudero T, Lee M, Carrel D, Blanco J and Munné S (2000) Analysis of chromosome abnormalities in sperm and embryos fromm two 45,XY,t(13;14)(q10;q10) carriers. Prenat Diagn 20,599-602.
10. Evans JA, Canning N, Hunter AGW, Martslof JT, Ray M, Thompson DR and Hamerton JL (1978) A cytogenetic survey of 14,069 new-born infants.III. An analysis of the significance and cytogenetic behaviour of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet 20,96-123.
11. 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 16,2274-2278.
12. Gropp A and Winking H (1981) Robertsonian translocations: cytology, meiosis, segregation patterns and biological consequences of heterozygosity. Symp Zool Soc Lond 47,141-181.
13. Guttenbach M, Engel W and Schmid M (1997) Analysis of structural and numerical chromosome abnormalities in sperm normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet 100,1-21.
14. 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 hybridization. Hum Genet 106,188-193.
15. Iwarsson E, Malmgren H, Inzunza J, Ahrlund-Richter L, Sjoblom P, Rosenlund B, Fridtrom M, Hovatta O, Nordenskjold M and Blennow E (2000) Highly abnormal cleavage divisions in preimplantation embryo from translocations carriers. Prenat Diagn 20,1038-1047.
16. LeMaire-Adkins R, Radke K and Hunt PA (1997) Lack of checkpoint control at the metaphase/anaphase transition: a mechanism of meiotic nondisjunction in mammalian female. J Cell Biol 139,1611-1619.
17. Luciani JM, Guichaoua MR and Morazzani MR (1984) Complete pachytene chromomere karyotypes of human spermatocyte bivalents. Hum Genet 66,267-271.
18. Martin RH (1988) Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 80,357-361.
19. Martin RH, Ko E and Hildebrand K (1992) Analysis of sperm chromosome complements from a man heterozygous for a Robertsonian translocation 45,XY,t(15;22). Am J Med Genet 43,855-857.
20. Morel F, Roux C and Bresson JL (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.
21. Munné S, Escudero T, Sandalinas M, Sable D and Cohen J (2000) Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 90,303-308.
22. 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.
23. 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.
24. Pellestor F (1990) Analysis of meiotic segregation in a man heterozygous for a 13;15 Robertsonian translocation and a review of literature. Hum Genet 85,49-54.
25. Pellestor F, Séle B and Jalbert H (1987) Chromosome analysis of spermatozoa from a male heterozygous for a 13;14 Robertsonian translocation. Hum Genet 76,116-120.
26. Pellestor F, Imbert I, Andréo B and Lefort G (2001) Study of the occurence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization primed in-situ labelling techniques. Hum Reprod 16,1155-1164.
27. Rives N, Mazurier S, Bellet D, Joly G and Macé B (1998) Assesment of autosome and gonosome disomy in human sperm nuclei by chromosome painting. Hum Genet 102,616-623.
28. Rives N, Wust S, David B, Duchesne V, July G and Macé B (1999) Fluorescence in situ Hybridization with chromosome paint probes: a novel approach to assess aneuploidy in human sperm nuclei. J Assist Reprod Genet 16,46-51.
29. Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D and Séle B (1995) Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH using three plasmid and two YAC probes. Hum Genet 96,655-660.
30. Scriven PN, Flinter FA, Braude PR and Ogivie CM (2001) Robertsonian translocations - reproductive risks and indications for preimplantation genetic diagnosis. Hum Reprod 16,2267-2273.
31. Syme RM and Martin RH (1992) Meiotic segregation of a 21;22 Robertsonian translocation. Hum Reprod 7,825-829.
32. Tateno H, Miyake YI, Mori H, Kamiguchi Y and Mikamo K (1994) Sperm chromosome study of two bulls heterozygous for different Robertsonian translocations. Hereditas 120,7-11.
33. Therman E, Susman B and Denniston C (1989) The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet 53,49-65.
34. Vidal F, Templado C, Navarro J, Marina S and Egozcue J (1982) Meiotic and synaptonemal complexes studies in a 14/21 translocation carrier. Int J Androl 5,21-26.