A FAMILIAL CASE REPORT OF A 13;22 CHROMOSOMAL
TRANSLOCATION WITH RECURRENT
INTRACYTOPLASMIC SPERM INJECTION FAILURE Verma S, Shah R, Bhat A, Bhat GR, Dada R, Kumar R, *Corresponding Author: Dr. Rakesh Kumar, Assistant Professor, Coordinator, Genetics Research Group,
Department of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu & Kashmir, 182320,
India. Tel.: +91-91-285-695; ext. 2288. Mobile: +91-94-419-279-629. Fax: +91-91-285-694.
E-mail: kumar.rakesh@ smvdu.ac.in page: 73
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REFERENCES
1. Wang J, Sauer MV. In vitro fertilization (IVF): A
review of 3 decades of clinical innovation and technological
advancement. Ther Clin Risk Manag. 2006;
2(4): 355-364.
2. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune
JP, Briault S, et al. Chromosomal factors of infertility
in candidate couples for ICSI: An equal risk of
constitutional aberrations in women and men. Hum
Reprod. 2001; 16(1): 82-90.
3. Heard E, Turner J. Function of the sex chromosomes
in mammalian fertility. Cold Spring Harbor Perspect
Biol. 2011; 3(10): a002675.
4. Zhang H, Wang R, Li L, Sun W, Zhang H, Liu R.
Male carriers of balanced reciprocal translocations
in Northeast China: Sperm count, reproductive performance,
and genetic counseling. Genet Mol Res.
2015; 14(4): 18792-18798.
5. Mau-Holzmann U. Somatic chromosomal abnormalities
in infertile men and women. Cytogenet Genome
Res. 2005; 111 (3-4): 317-336.
6. Elfateh F, Wang R, Zhang Z, Jiang Y, Chen S, Liu R.
Influence of genetic abnormalities on semen quality
and male fertility: A four-year prospective study. Iran
J Reprod Med. 2014; 12(2): 95-102.
7. Kumar R, Tanwar M, Ammini AC, Kumar R, Gupta
NP, Sharma RK, et al. Robertsonian translocation
and their role in pathogenesis of recurrent in vitro
fertilization failure. Med Sci Monit. 2008; 14(12):
CR617-CR620.
8. Guichaoua M, Quack B, Speed R, Noel B, Chandley
A, Luciani J. Infertility in human males with autosomal
translocations: Meiotic study of a 14;22 Robertsonian
translocation. Hum Genet. 1990; 86(2): 162-166.
9. Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya
G, Samuel CR. Chromosomal abnormalities in
infertile men from southern India. J Clin Diagn Res.
2015; 9(7): GC05-GC10.
10. Vasilevska M, Ivanovska E, Kubelka Sabit K, Sukarova-
Angelovska E, Dimeska G. The incidence
and type of chromosomal translocations from prenatal
diagnosis of 3800 patients in the Republic of Macedonia.
Balkan J Med Genet. 2013; 16(2): 23-28. 11. Chatziparasidou A, Christoforidis N, Samolada G,
Nijs M. Sperm aneuploidy in infertile male patients:
A systematic review of the literature. Andrologia.
2015; 47(8): 847-860.
12. Rooney DE, Czepulkowski BH, Editors. Human Cytogenetics:
A Practical Approach. Volume II: Malignancy
and Acquired Abnormalities, 2nd ed. Oxford,
Oxfordshire, UK: Oxford University Press, 2009.
13. Sumner A. The nature and mechanisms of chromosome
banding. Cancer Genet Cytogenet. 1982; 6(1): 59-87.
14. McGowan-Jordan J, Simons A, Schmid M, Editors.
An International System of Human Cytogenomic
Nomenclature (2016). Basel, Switzerland: S. Karger
AG, 2016.
15. Murphy F, Merrell J. Negotiating the transition: Caring
for women through the experience of early miscarriage.
J Clin Nurs. 2009; 18(11): 1583-15891.
16. Shamsi MB, Venkatesh S, Pathak D, Deka D, Dada
R. Sperm DNA damage and oxidative stress in recurrent
spontaneous abortion (RSA). Indian J Med Res.
2011; 133(5): 550-551.
17. Zarifian A, Farhoodi Z, Amel R, Mirzaee S, Hassanzadeh-
Nazarabadi M. Balanced chromosomal rearrangement
in recurrent spontaneous abortions: A case
report. Int J Mol Cell Med. 2012; 1(4): 225-228.
18. Carp H, Guetta E, Dorf H, Soriano D, Barkai G, Schiff
E. Embryonic karyotype in recurrent miscarriage with
parental karyotypic aberrations. Fertil Steril. 2006;
85(2): 446-450.
19. Moedjono SJ, Sparkes RS. Partial trisomy of 13(pter
to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)
mat. Hum Genet. 1979; 50(3): 241-246.
20. Kato T, Kurahashi H, Emanuel BS. Chromosomal
translocations and palindromic AT-rich repeats. Curr
Opin Genet Dev. 2012; 22(3): 221-228.
21. Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer
M, Shanske A, et al. AT-rich palindromes mediate
the constitutional t(11;22) translocation. Am J Hum
Genet. 2001; 68(1): 1-13.
22. Golam Sabbir M, Roy A, Mandal S, Dam A, Roychoudhury
S, Panda CK. Deletion mapping of chromosome
13q in head and neck squamous cell carcinoma
in Indian patients: Correlation with prognosis
of the tumour. Int J Exp Pathol. 2006; 87(2): 151-161.
23. Manjunatha K, Chetan G, Arathi R, Rao GB, Latha
P, Padma S, et al. Frequency, association and genetic
implications of chromosomal fragile sites in mental
retardation. Int J Hum Genet. 2002; 2(1): 33-39.
24. Shamsi M, Kumar K, Dada R. Genetic and epigenetic
factors: Role in male infertility. Indian J Urol. 2011;
27(1): 110-120.
25. Gardner RJM, Sutherland GR, Shaffer LG, Editors.
Chromosome Abnormalities and Genetic Counseling,
4th ed. New York, NY, USA: Oxford University
Press, 2012.
26. Harton GL, Tempest HG. Chromosomal disorders and
male infertility. Asian J Androl. 2012; 14(1): 32-39.
27. Daniel A. Spontaneous loss of fetuses with chromosomally
unbalanced D/21 – or reciprocal translocations
in late pregnancy. Am J Med Genet Part A. 1989;
33(2): 285.
28. Midro AT, Stengel Rutkowski S, Stene J. Experiences
with risk estimates for carriers of chromosomal
reciprocal translocations. Clin Genet. 1992; 41(3):
113-122.
29. Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida
O. Cytogenetic survey of subfertile males in
Japan. Urol Int. 1989; 44(4): 194-197.
30. Evgeni E, Charalabopoulos K, Asimakopoulos B.
Human sperm DNA fragmentation and its correlation
with conventional semen parameters. J Reprod
Infertil. 2014; 15(1): 2-14.
31. Munné S. Preimplantation genetic diagnosis for aneuploidy
and translocations using array comparative
genomic hybridization. Curr Genomics. 2012; 13(6):
463-470.
32. Coulam C, Jeyendran R, Fiddler M, Pergament E.
Discordance among blastomeres renders preimplantation
genetic diagnosis for aneuploidy ineffective.
J Assist Reprod Genet. 2007; 24(1): 37-41.
33. Timeva T, Shterev A, Kyurkchiev S. Recurrent implantation
failure: The role of the endometrium. J
Reprod Infertil. 2014; 15(4): 173-183.
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