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

DISCUSSION

Spontaneous abortion involves pregnancy fatalities from the start until the 24th week of pregnancy [15,16]. Many risk factors are related with early pregnancy loss, including genetic and endocrine irregularities, immune dysfunction and progressive maternal age [17]. Reciprocal translocations are the leading cause of recurrent miscarriages [18]. Translocation of 13;22 is a leading cause of partial trisomy with elevated levels of neutrophils in patients [19]. We describe here a familial case of t(13:22) in three generations of a family with a BOH. Family members were phenotypically normal because of nature of the translocation. Pedigree analysis helped in tracking the path of transmission of the translocation from mother (I-2). From the proband’s sister (II-2), the translocation transmitted to her child (III-2). We were successful in identifying the breakpoint interval on the long arm of chromosome 13q21. It has been reported to be an AT-rich repeat region and very prone to rearrangements due to the presence of fragile sites. The sequences and mechanisms responsible for the fragility at these sites remains largely unknown [20,21]. Deletions in chromosome 13q21 occur frequently in head and neck squamous cell carcinoma (HNSCC) [22]. Manjunatha et al. [23] studied five mentally retarded patients having fragile sites on chromosome 13q21. Though the breakpoint interval is the same, no family member in the present study had mental retardation or HNSCC. The infertility in men with autosomal aberrations may be due to the physical contact of unpaired autosomal material with sex chromosomes, which adversely affects meiotic segregation and may lead to spermatogenic arrest [24,25]. Such a reciprocal translocation leads to meiotic segregational abnormalities. The patterns of inheritance are complex and depend on the chromosomes involved and the size of the rearrangements [26-28]. Meiotic studies have shown that translocations may result in spermatogenetic arrest or impairment. However, our findings were in contradiction to the report by Matsuda et al. [29] that close relatives of the affected person carrying same translocation will be fertile. The present study has proved it beyond doubt that translocations could cause recurrent reproductive loss, even though carriers are phenotypically normal. Recent advancement in the field of infertility has led to strong argument of genetic analysis pre or post implantation. Poor fertilization and pregnancy rate has been reported in several studies on translocation carriers opting for ART [30]. Preimplantation genetic diagnosis (PGD) in such cases has shown a very high incidence of aneuploidies, and structural abnormalities [31,32]. This study is highly significant in this era of ART, where the majority of couples with BOH or infertility opt for ART/ICSI. The ART is a very expensive technique and is usually not covered by medical insurance, and if it fails recurrently, leads to severe physical and financial stress. Despite major advances in ART and professional expertise, the carry home live birth rate following ART is 25.0-35.0%. It has been reported that genetic abnormality could be a major cause for fertilization failure or poor blastocyst development following ART and may lead to pre or post implantation failure [8,33]. Thus, all couples with BOH/reproductive and recurrent ART failure should undergo genetic analysis and those results could be corerelated with PGD of the blastocysts that are expected to be transferred. On conception, the patient should be followed by prenatal diagnosis. The present study is one of the finest case report of familial BOH, recurrent ART failures and chromosomal abnormality.

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