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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RESULTS
The proband was oligoasthenoteratozoospermic.
His average sperm count was 0.95 million/mL after three
semen analyses. The grade A, B, C and D motility was
38.0, 30.0, 20.0 and 12.0%, respectively. The abnormal
morphology was found in 79.0% sperms (65.0% sperms
had coiled tails, 14.0% had tapered heads and 21.0% had
normal morphology). The proband was found to carry
a balanced translocation between chromosomes 13;22.
The breakpoint was at 13q21.2 and the terminal part was
transferred to 22q13.3. The karyotype was 46;XY,t(13;22)
(q21.2;q13.3). Incidentally, the same translocation was
observed in the mother and sister of the proband. The
karyotypes of mother and sister were 46,XX,t(13;22)
(q21.2;q13.3) and 46,XX,t(13;22)(q21.2;q13.3), respectively.
The sister of the proband got pregnant during the
investigation and was counseled about the risk to the fetus,
of inheriting the genetic abnormality. The couple opted
for amniocentesis (in a private center other than AIIMS,
New Delhi, India). The amniocentesis was done at the
17th week of pregnancy and the fetus was found to carry
the same translocation (46;XX, t(13;22)(q21.2;q13.3) as
that of the mother (shown in Figure 2). However, couple
decided to continue the pregnancy. The growth of the fetus
was monitored through ultrasound and mother (II-2)
delivered a phenotypically normal girl.
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