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THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA Cover

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Balkan Journal of Medical Genetics
Volume 16 (2013): Issue 2 (December 2013)
By: ,  ,  ,   and    
Open Access
|Mar 2014
References

References

  1. 1. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991; 49(5): 995-1013.
    Search in Google Scholar
  2. 2. Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counseling, 3rd ed. New York: Oxford University Press, 2004.
    Search in Google Scholar
  3. 3. Shaffer LG, Slovak ML, Campbell LJ, Eds. ISCN (2009): an international system for human cytogenetic nomenclature. Basel: S. Karger, 2009.
    Search in Google Scholar
  4. 4. Boue A, Gallano P. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn. 1984; 4(special issue): 45-67. (Author: is this correct?)
    Open DOISearch in Google Scholar
  5. 5. Honda H, Miharu N, Samura O, He H, Ohama K. Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization. Hum Genet. 2000; 106(2): 188-193.
    Open DOISearch in Google Scholar
  6. 6. Morel F, Roux C, Bresson JL. FISH analysis of the chromosomal status of spermatozoa from three men with 45,XY,der(13;14)(q10;q10) karyotype. Mol Hum Reprod. 2001; 7(5): 483-488.
    Open DOISearch in Google Scholar
  7. 7. Anton E, Blanco J, Egozcue J, Vidal F. Sperm FISH studies in seven male carriers of Robertsonian transloca-tion t(13;14)(q10;q10). Hum Reprod. 2004; 19(6): 1345-1351.
    Open DOISearch in Google Scholar
  8. 8. Vidal F, Templado C, Navarro J, Marina S, Egozcue J. Meiotic and synaptonemal complex studies in a 14/21 translocation carrier. Int J Androl. 1982; 5(1): 21-26.
    Open DOISearch in Google Scholar
  9. 9. Templado C, Vidal F, Navarro J, Marina S, Egozcue J. Meiotic studies and synaptonemal complex analysis in two infertile males with a 13/14 balanced translocation. Hum Genet. 1984; 67(2): 162-165.
    Open DOISearch in Google Scholar
  10. 10. Ferguson-Smith MA. Prenatal chromosome analysis and its impact on the birth incidence of chromosome disorders. Br Med Bull. 1983; 39(4): 355-364.
    Open DOISearch in Google Scholar
  11. 11. Hook EB. Rates of chromosomal abnormalities at different maternal ages. Obstet Gynecol. 1981; 58(3): 282-285.
    Search in Google Scholar
  12. 12. Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, et al. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10; q10) in the majority of cases. Am J Med Genet A, 2005; 132(3): 310-313.
    Open DOISearch in Google Scholar
  13. 13. Wagstaff J, Hemann M. A familial “balanced” 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings. Am J Hum Genet 1995; 56(1): 302-309.
    Search in Google Scholar
  14. 14. Dufke A, Mayrhofer H, Enders H, Kaiser P, Leipoldt M. Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t(17;22)(q24.2; q11.23). Cytogenet Cell Genet. 2001; 93(3-4): 168-170.
    Open DOISearch in Google Scholar
  15. 15. Crolla JA, van Heyningen V. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet. 2002; 71(5): 1138-1149.
    Open DOISearch in Google Scholar
  16. 16. Bowser-Riley SM, Griffiths MJ, Creasy MR, Farndon PA, Martin KE, Thomson DAG, et al. Are double translocations double trouble? J Med Genet. 1988; 25(5): 326-331.
    Open DOISearch in Google Scholar
  17. 17. Douet-Guilbert N, Bris MJ, Amice V, Marchetti C, Delobel B, Amice J, et al. Interchromosomal effect in sperm of males with translocations: report of 6 cases and review of the literature. Int J Androl. 2005; 28(6): 372-379.
    Open DOISearch in Google Scholar
  18. 18. Vasilevska M, Anevska Mitrevska A, Stefanovska AM, Sekovska E, Adamoska S, Dimeska G. De novo apparently balanced reciprocal (X;10) translocation from prenatal diagnosis of IVF achieved pregnancy. Chromosome Res. 2009; 17(Suppl): 13-45.
    Search in Google Scholar
  19. 19. Schmidt M, Du Sart D. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet. 1992; 42(2): 161-169.
    Open DOISearch in Google Scholar
DOI: https://doi.org/10.2478/bjmg-2013-0027 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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Language: English
Page range: 23 - 28
Published on: Mar 11, 2014
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Human chromosomal translocations,
Karyotype,
Prenatal diagnosis
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2014 M. Vasilevska, E. Ivanovska, K. Kubelka Sabit, E. Sukarova-Angelovska, G. Dimeska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 16 (2013): Issue 2 (December 2013)
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