Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility

American Journal of Medical Genetics, Part A

Volumn 146, Issue 20, 2008, Pages 2651-2656

  Lebbar, Aziza ^a,b   Callier, Patrick ^c   Baverel, Françoise ^a,b   Marle, Nathalie ^c   Patrat, Catherine ^b,c   Le Tessier, Dominique ^a   Mugneret, Francine ^c   Dupont, Jean Michel ^a,b  

^a Laboratoire de Cytogénétique ^*  (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL DU BOCAGE   (France)

Author keywords

Chromosome mosaicism; Complex chromosomal rearrangements; FISH; Genetic counseling; ICSI

Indexed keywords

ADULT; ARTICLE; ASTHENOSPERMIA; CASE REPORT; CHROMOSOME 12; CHROMOSOME 14; CHROMOSOME 9; CHROMOSOME BAND; CHROMOSOME REARRANGEMENT; COMPLEX CHROMOSOME REARRANGEMENT; CYTOGENETICS; FEMALE INFERTILITY; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFERTILITY; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE; KARYOTYPING; LEUCOSPERMIA; MALE; MOLECULAR GENETICS; MOSAICISM; NECROSPERMIA; OLIGOSPERMIA; PRIORITY JOURNAL; SEMEN ABNORMALITY; SEMEN ANALYSIS; SPERMATOZOON COUNT; SPONTANEOUS ABORTION; TERATOSPERMIA;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME PAINTING; CYTOGENETIC ANALYSIS; GENE REARRANGEMENT; GENETIC COUNSELING; HUMANS; INVERSION, CHROMOSOME; MALE; MIDDLE AGED; MOSAICISM; TRANSLOCATION, GENETIC;

EID: 55549139808     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32499     Document Type: Article

References (33)

1. Batanian JR, Eswara MS. 1998. De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: Report and review. Am J Med Genet 78:44-51.
2. Batista DA, Pai GS, Stetten G. 1994. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet 53:255-263.
3. Berend SA, Bodamer OA, Shapira SK, Shaffer LG, Bacino CA. 2002. Familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet 109:311-317.
4. Cai T, Yu P, Tagle DA, Lu D, Chen Y, Xia J. 2001. A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility. Hum Reprod 16:59-62.
5. Cans C, Cohen O, Mermet MA, Demongeot J, Jalbert P. 1993. Human reciprocal translocations: Is the unbalanced mode at birth predictable? Hum Genet 91:228-232.
6. Coco R, Rahn MI, Estanga PG, Antonioli G, Solari AJ. 2004. A constitutional complex chromosome rearrangement involving meiotic arrest in an azoospermic male: Case report. Hum Reprod 19:2784-2790.
7. De Braekeleer M, Dao TN. 1990. Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod 5:519-528.
8. Farrell SA. 1991. Balanced reciprocal translocation mosaicism: New cases and a literature review. Am J Med Genet 40:345-347.
9. Gardner RJM, Sutherland G. 2004. Chromosome abnormalities and genetic counselling, 3e. New York: Oxford University Press. p 186-194.
10. Gibson LH, McGrath J, Yang-Feng TL. 1997. A complex chromosome rearrangement with at least five breakpoints studied by fluorescence in situ hybridization. Am J Med Genet 68:417-420.
11. Hamerton JL, Canning N, Ray M, Smith S. 1975. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 8:223-343.
12. Hlatky L, Sachs RK, Vazquez M, Comforth MN. 2002. Radiation induced chromosome aberrations: Insights gained from biophysical modeling. Bioessays 24: 714-723.
13. Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J. 1974. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet 37:359-376.
14. Jalbert P, Sele B, Jalbert H. 1980. Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing. Hum Genet 55:209-222.
15. Johannesson T, Ehlers S, Wahlstrom J. 1997. Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization. Clin Genet 51:281-285.
16. Kausch K, Haaf T, Kohler J, Schmid M. 1988. Complex chromosomal rearrangement in a woman with multiple miscarriages. Am J Med Genet 31:415-420.
17. Kousseff BG, Nichols P, Essig YP, Miller K, Weiss A, Tedesco TA. 1987. Complex chromosome rearrangements and congenital anomalies. Am J Med Genet 26:771-782.
18. Leegte B, Sikkema-Raddatz B, Hordijk R, Bouman K, van Essen T, Castedo S, de Jong B. 1998. Three cases of mosaicism for balanced reciprocal translocations. Am J Med Genet 79:362-365.
19. Lespinasse J, North MO, Paravy C, Brunel MJ, Malzac P, Blouin JL. 2003. balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure. Hum Reprod 18:2058-2066.
20. Madan K, Nieuwint AW, van Bever Y. 1997. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet 99: 806-815.
21. Meer B, Wolff G, Back E. 1981. Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations. Hum Genet 58:221-225.
22. Nielsen J, Sillesen I. 1975. Incidence of chromosome aberrations among 11148 newborn children. Humangenetik 30:1-12.
23. Oliver-Bonet M, Navarro J, Codina-Pascual M, Abad C, Guitart M, Egozcue J, Benet J. 2004. From spermatocytes to sperm: Meiotic behaviour of human male reciprocal translocations. Hum Reprod 19:2515-2522.
24. Patsalis PC, Evangelidou P, Charalambous S, Sismani C. 2004. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet 12:647-653.
25. Rodriguez MT, Martin MJ, Abrisqueta JA. 1985. A complex balanced rearrangement involving four chromosomes in an azoospermic man. J Med Genet 22:66-67.
26. Roeder GS, Bailis JM. 2000. The pachytene checkpoint. Trends Genet 16:395-403.
27. Rothlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel A. 1999. Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet 7:873-883.
28. Saadallah N, Hulten M. 1985. A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility. Hum Genet 71:312-320.
29. Siffroi JP, Benzacken B, Straub B, Le Bourhis C, North MO, Curotti G, Bellec V, Alvarez S, Dadoune JP. 1997. Assisted reproductive technology and complex chromosomal rearrangements: The limits of ICSI. Mol Hum Reprod 3:847-851.
30. Spikes AS, Hegmann K, Smith JL, Shaffer LG. 1995. Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies. Am J Med Genet 57:31-34.
31. Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers I. 1996. Cytogenetics of infertile men. Hum Reprod 11:1-24, discussion 25-26.
32. Van Der Burgt CJ, Merkx GF, Janssen AH, Mulder JC, Suijkerbuijk RF, Smeets DF. 1992. Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. J Med Genet 29:739-741.
33. Vargas MT, Fernandez-Novoa MC. 2001. Balanced reciprocal translocation mosaicism: Clinical implications. Two new cases. Genet Couns 12:269-271.