Sperm chromosome analysis in the father of a child with a de-novo reciprocal translocation t(11;15)(q12;q22) by G-banding and fluorescence in-situ hybridization

Human Reproduction

Volumn 13, Issue 1, 1998, Pages 60-64

  Colls, P ^a   Martinez Pasarell, O ^a   Perez M M ^b   Egozcue, J ^a   Templado, C ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b Laboratoris CERBA   (Spain)

Author keywords

De novo translocation; FISH; G banding; Sperm chromosomes

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME 11; CHROMOSOME 15; CHROMOSOME ANALYSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; MALE; RECIPROCAL CHROMOSOME TRANSLOCATION; SPERM; SPERMATOZOON; STRUCTURAL CHROMOSOME ABERRATION;

CRICETINAE;

EID: 0031932706     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/13.1.60     Document Type: Article

References (30)

1. Behjati, F., Mullarkey, M., Bergbaum, A. et al. (1997) Chromosome deletion 17p 11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation. Clin. Genet., 51, 71-74.
2. Benet, J., Genescà, A., Navarro, J. et al. (1986) G-banding of human sperm chromosomes. Hum. Genet., 73, 181-182.
3. Benet, J., Fuster, C., Genescà, A. et al. (1989) Expression of fragile sites in human sperm and lymphocyte chromosomes. Hum. Genet., 81, 239-242.
4. Benet, J., Navarro, J., Genescà, A. et al. (1991) Chromosome abnormalities in human sperm after albumin or TEST-Yolk capacitation. Hum. Reprod., 6, 369-375.
5. Benet, J., Genescà, A., Navarro, J. et al. (1992) Cytogenetic studies in motile sperm from normal men. Hum. Genet., 89, 176-180.
6. Brandriff, B., Gordon, L.A., Crawford, B.B. et al. (1988) Sperm chromosome analysis to assess potential germ cell mosaicism. Clin. Genet., 34, 85-89.
7. Chandley, A. (1991) On the parental origin of de novo mutation in man. J. Med. Genet., 28, 217-223.
8. Cohen, O., Cans, C., Cuillel, M. et al. (1996) Cartographic study: breakpoints in 1574 families carrying human reciprocal translocations. Hum. Genet., 97, 659-667.
9. Davis, J.R. and Hagaman, R.M. (1987) Fragile sites are unrelated to reciprocal translocation breakpoints. Clin. Genet., 31, 308-310.
10. Estop, A.M., Marquez, C., Munnè, S. et al. (1995) An analysis of human sperm chromosome breakpoints. Am. J. Hum. Genet., 56, 452-460.
11. Fuster, C., Miró, R., Templado, C. et al. (1989) Fragile sites and breakpoints in constitutional rearrangements and in human sperm chromosomes. Hum. Genet., 82, 330-334.
12. Garcia-Sagredo, J.M., San Roman, C., Gallego-Gomez, M.E. et al. (1984) Fragile chromosome 16(q22) causes a balanced translocation at the same point. Hum. Genet., 65, 211-213.
13. Genescà, A., Caballin, M.R., Miró, R. et al. (1992) Repair of human sperm chromosome aberrations in the hamster egg. Hum. Genet., 89, 181-186.
14. 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.
15. Hecht, F. and Hecht, B.K. (1984a) Fragile sites and chromosome breakpoints in constitutional rearrangements I. Amniocentesis. Clin. Genet., 26, 169-173.
16. Hecht, F. and Hecht, B.K. (1984b) Fragile sites and chromosome breakpoints in constitutional rearrangements II. Spontaneous abortions, stillbirths and newboras. Clin. Genet, 26, 174-177.
17. Human Gene Mapping 11 (1991) Cytogenet. Cell. Genet., 58, 1-2200.
18. ISCN (1995) An International System for Human Cytogenetic Nomenclature, Mitelman, F. (ed.). S. Karger, Basel.
19. Mariani, T., Musio, A. and Simi, S. (1995) No statistical association between fragile sites and constitutional chromosome breakpoints. Cancer Genet. Cytogenet., 85, 78-81.
20. Marquez, C., Egozcue, J., Martorell, M.R. et al. (1996) Colcemid increases the frequency of chromosome abnormalities in human sperm. Cytogenet. Cell. Genet., 72, 164-170.
21. Martin, R.H. (1983) A detailed method for obtaining preparations of human . sperm chromosomes. Cytogenet. Cell. Genet., 35, 252-256.
22. Martin, R.H. (1986) A fragile site 10q25 in human sperm chromosomes. J. Med. Genet., 23, 279.
23. Olson, S.D. and Magenis, R.E. (1988) Preferential paternal origin of de novo structural chromosome rearrangements. In Daniel, A. (ed.), The Cytogenetics of Mammalian Autosomal Rearrangements. Alan R. Liss, New York, pp. 583-599.
24. Sega, G.A. (1976) Molecular dosimetry of chemical mutagens: mesasurement of molecular doses and DNA repair in mammalian germ cells. Mutat. Res., 38, 217-222.
25. Templado, C., Márquez, C., Munné, S. et al. (1996) An analysis of human sperm chromosome aneuploidy. Cytogenet. Cell Genet., 74, 194-200.
26. Tommerup, N., Nielsen, J. and Mikkelsen, M. (1985) A folate sensitive heritable fragile site at 19pl3. Clin. Genet., 27, 510-514.
27. Voullaire, L.E., Webb, G.C. and Leversha, M.A. (1987) Chromosome deletion at Ilq23 in an abnormal child from a family with inherited fragility at Ilq23. Hum. Genet., 76, 202-204.
28. Warburton, D. (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet., 49, 995-1013.
29. Working, P.K. and Butterworth, B.E. (1984) An assay to detect chemically induced DNA repair in rat spermatocytes. Environ. Mutagen., 6, 273-286.
30. Yavetz, H., Yogez, L., Hommonai, Z, et al. (1991) Prerequisites for successful human sperm cryobanking: sperm quality and prefreezing holding time. Fertil. Steril., 55, 812-816.