THE INCIDENCE AND TYPE OF CHROMOSOMAL
TRANSLOCATIONS FROM PRENATAL DIAGNOSIS
OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA
Vasilevska M1,*, Ivanovska E1, Kubelka Sabit K1, Sukarova-Angelovska E2, Dimeska G3
*Corresponding Author: Marinela Vasilevska, M.Sc., Department of Diagnostic Laboratories, Clinical Hospital
Acibadem-Sistine, Skupi 5A, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3099-511; Fax: +389-2-
3099-599; vasilevskam@acibademsistina.com.mk
page: 23
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REFERENCES
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.
2. Gardner RJM, Sutherland GR. Chromosome
Abnormalities and Genetic Counseling, 3rd ed.
New York: Oxford University Press, 2004.
3. Shaffer LG, Slovak ML, Campbell LJ, Eds.
ISCN (2009): an international system for human
cytogenetic nomenclature. Basel: S. Karger,
2009.
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?)
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.
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.
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.
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.
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.
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.
11. Hook EB. Rates of chromosomal abnormalities
at different maternal ages. Obstet Gynecol.
1981; 58(3): 282-285.
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.
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.
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.
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.
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.
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.
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.
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.
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