Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism

International Journal of Andrology

Volumn 32, Issue 3, 2009, Pages 231-234

  Perrin, A ^a,b   Douet Guilbert, N ^a,b   Le Bris, M J ^a   May Panloup, P ^c   Guichet, A ^c   Amice, V ^a   Amice, J ^a,b   De Braekeleer, M ^a,b   Morel, F ^a,b  

^a CHU MORVAN   (France)

^b FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

^c ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

Aneuploidy; Fluorescence in situ hybridization; Male infertility; Mosaic trisomy 18; Spermatozoa

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; AUTOSOME MOSAICISM; CASE REPORT; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MALE INFERTILITY; MEIOSIS; OLIGOTERATOZOOSPERMIA; PRIORITY JOURNAL; SEMEN ABNORMALITY; TRISOMY 18;

ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MEIOSIS; MOSAICISM; OLIGOSPERMIA; SEMEN ANALYSIS; SPERMATOZOA; TRISOMY;

EID: 65549170458     PISSN: 01056263     EISSN: 13652605     Source Type: Journal    
DOI: 10.1111/j.1365-2605.2007.00840.x     Document Type: Article

References (19)

1. Bass, H. N., Fox, M., Wulfsberg, E., Sparkes, R. S. Crandall, B. F. (1982) Trisomy 18 mosaicism: clues to the diagnosis. Clinical Genetics 22, 327 330. (Pubitemid 13168232)
2. Begleiter, M. L. Harris, D. J. (1995) Trisomy 18 mosaicism in a 15-year-old boy with normal intelligence and short stature. American Journal of Medical Genetics 56, 426 427.
3. Beratis, N. G., Kardon, N. B., Hsu, J. Y., Grossman, D. Hirschhorn, K. (1972) Parental mosaicism in trisomy 18. Pediatrics 50, 908 911.
4. Carey, J. C. (2005) Trisomy 18 and trisomy 13. In : Management of Genetic Syndromes (eds S. B. Cassidy J. E. Allanson pp. 555 568. Wiley-Liss, New York.
5. Carter, P. E., Pearn, J. H., Bell, J., Martin, N. Anderson, N. G. (1985) Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics. Clinical Genetics 27, 59 61. (Pubitemid 15193406)
6. De Braekeleer, M. Dao, T. N. (1991) Cytogenetic studies in male infertility: a review. Human Reproduction 6, 245 250.
7. De Braekeleer, M., Douet-Guilbert, N., Le Bris, M. J., Amice, V., Amice, J. Morel, F. (2006) Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. In : Cytogenetics and Infertility (ed. M. De Braekeleer pp. 113 129. Transworld Research Network, Trivandrum, India.
8. de Grouchy, J. Turleau, C. (1984) Atlas des Maladies Chromosomiques. Expansion Scientifique Française, Paris.
9. Lim, A. S. Su, L. C. (1998) Mosaic trisomy 18 male with normal intelligence who fathered a normal baby girl. American Journal of Medical Genetics 76, 365 366. (Pubitemid 28136113)
10. Mehdi, M., Smatti, B., Saad, A., Guerin, J. F. Benchaib, M. (2006) Analysis by fluorescence in situ hybridization (FISH) of the relationship between gonosomic aneuploidy and the results of assisted reproduction in men with severe oligozoospermia. Andrologia 38, 137 141. (Pubitemid 44049879)
11. Morel, F., Mercier, S., Roux, C., Clavequin, M. C. Bresson, J. L. (1997) Estimation of aneuploidy levels for 8, 15, 18, X and Y chromosomes in 97 human sperm samples using fluorescence in situ hybridization. Fertility and Sterility 67, 1134 1139. (Pubitemid 27241910)
12. Morel, F., Douet-Guilbert, N., Moerman, A., Duban, B., Marchetti, C., Delobel, B., Le Bris, M. J., Amice, V. De Braekeleer, M. (2004) Chromosome aneuploidy in the spermatozoa of two men with globozoospermia. Molecular Human Reproduction 10, 835 838. (Pubitemid 40045016)
13. Morel, F., Douet-Guilbert, N., Perrin, A., Le Bris, M. J., Amice, V., Amice, J. De Braekeleer, M. (2006) Chromosomal abnormalities in spermatozoa. In : Cytogenetics and Infertility (ed. M. De Braekeleer pp. 53 112. Transworld Research Network, Trivandrum, India.
14. Peschka, B., Leygraaf, J., van der Ven, K., Montag, M., Schartmann, B., Schubert, R., van der Ven, H. Schwanitz, G. (1999) Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Human Reproduction 14, 2257 2263. (Pubitemid 29425410)
15. Rives, N., Saint Clair, A., Mazurier, S., Sibert, L., Simeon, N., Joly, G. Mace, B. (1999) Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males. Human Genetics 105, 266 272. (Pubitemid 29440671)
16. Tolmie, J. L. (1997) Down syndrome and other autosomal trisomies. In : Principles and Practice of Medical Genetics (eds A. E. H. Emery D. L. Remoin pp. 945 950. Churchill Livingstone, Edinburgh.
17. Tucker, M. E., Garringer, H. J. Weaver, D. D. (2007) Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. American Journal of Medical Genetics 143, 505 517. (Pubitemid 46348922)
18. Wei, H. J., Chiang, H. S., Lin, W. M. Wen, J. Y. (2000) Pregnancy after preimplantation genetic diagnosis by fluorescence in situ hybridization using 18-, X-, and Y-chromosome probes in an infertile male with mosaic trisomy 18. Journal of Assisted Reproduction and Genetics 17, 229 231. (Pubitemid 30610077)
19. World Health Organization (1999) Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interaction. Cambridge University Press, New York.