Balkan Journal of Medical Genetics

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

CASE REPORT

Family Case Report. The couple was not consanguineous and primarily infertile, involving a 31-year-old healthy male (II-3) and his 27-year-old wife (II-4) (Figure 1). They visited our laboratory after failing ICSI three times. On recording the detailed family history of the proband (II-3), his sister (II-2) and mother (I-2), they were found to have a BOH. Affected members of the family along with their spouses were called in for cytogenetic investigation (father of the proband was deceased). A detailed family, medical and reproductive history was taken in each case and the pedigree drawn. Occurrence of other factors, such as congenital malformations, drug addictions, radiation exposure or toxic environmental agents, was ruled out. Routine clinical investigations also ruled out any infectious or autoimmune cause for infertility. The proband was a healthy male (178 cm/76 kg) with well developed secondary sexual characters. He was oligoasthenoteratozoospermic (95000 spermatozoa/mL). Endocrine evaluation showed that follicle-stimulating hormone (FSH) (6.5 mIU/mL), luteinizing hormone (LH) (4.3 mIU/ mL) and testosterone (360 ng/dL) were normal. Because of the spermiogram results and the duration of infertility, ICSI was performed and failed three times. The wife of the proband was normal on gynecological examination. The proband’s sister (II-2), aged 26 years (158 cm/56 kg), suffered three first trimester spontaneous abortions. Her husband was clinically and cytogenetically normal. Her hormonal profile (FSH 5.5 mIU/mL, LH 15.0 mIU/ mL and prolactin (PRL) 11.0 ng/dL) was within the normal range. The mother (I-2) of the proband was 66 years old (155 cm/69 kg). Her two children were conceived after 12 years of marriage; and she had a history of repeated miscarriages in the first trimester of pregnancy, but was not able to recollect her case history properly. Ethical clearance was obtained prior to the study from the Ethics Clearance Committee of the All India Institute of Medical Sciences (AIIMS), New Dehli, India. The patients were referred from the infertility clinic of the Department of Urology, AIIMS, and the ART Centre of the Army Research and Referral Hospital, New Delhi, India. The study was explained to both patients and controls in English and Hindi (local language).

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