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

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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