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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Abstract

The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Peripheral blood lymphocytes, obtained for karyotyping, were studied by a standard Gbanding technique. Chromosomal analysis of the members of the pedigree, including the probands, showed the presence of the same translocation, t(13;22)(q21.2;q13.3), carried by three generations of the family. The sister and the mother of the proband had multiple spontaneous abortions in the first trimester. The spouses, when examined cytogenetically, were found to be normal. We propose the involvement of a balanced t(13;22)(q21.2;q13.3) chromosomal translocation in the pathogenesis of recurrent ART or spontaneous reproductive failures. Hence, it is suggested that all cases with structural chromosomal abnormalities be counseled prior to opting for ART and undergoing pre-implantation genetic diagnosis (PGD). This would prevent recurrent financial, physical and emotional stress in couples seeking ART.



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