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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