robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population . in this report , we present a nonhomologous robertsonian translocation in a female patient with a history of repeated abortions . a couple with the complaint of repeated abortions was admitted in the institute of genetics and hospital for genetic diseases in begumpet , hyderabad , india for cytogenetic evaluation . chromosomal analysis of the couple revealed an abnormal karyotype in the female partner with 45 , xx , rob ( 14 , 15 ) ( q10 ; q10 ) chromosomal constitution , while the male partner showed normal 46 , xy karyotype . the cytogenetic analysis of couples with repeated abortions is mandatory to identify any probable chromosomal aberrations . prenatal diagnosis should be offered to couples with repeated abortions in the case of future pregnancies . although the cause is unknown in many instances , but parental chromosomal abnormality is one of the possible causes for recurrence of miscarriages in the first three months of pregnancy ( 1 ) . robertsonian translocations ( rts ) are recognized to be the most common structural chromosomal abnormalities in the population with an incidence of 1.23/1000 live births ( 2 ) . its incidence in neonates is estimated to be at about 1/1000 to 2/1000 live births ( 3 ) . robertsonian translocation involves two acrocentric chromosomes , which fuse at the centromeric region and lose their short arms . these chromosomal translocations are mainly observed in group d including 13 , 14 , 15 and group g including 21 and 22 chromosomes . the most frequent type of d / d translocation includes 13 ; 14 translocation , whereas translocation rob ( 13 ; 15 ) and rob ( 14 ; 15 ) are rare structural rearrangements among robertsonian translocations ( 4 ) . in robertsonian translocation , the pericentric regions of two acrocentric chromosomes fuse to form a single centromere or two . the resulting balanced karyotype has only 45 chromosomes including the translocated one , which is the result of a fusion of the long arms of two acrocentric chromosomes ( 5 ) . in the present study , we report a robertsonian translocation rob ( 14 ; 15 ) in a female patient with a history of repeated abortions . a non - consanguineous couple ( a 27-year old male and a 25-year old female ) with the complaint of repeated abortions attended the aforementioned institute for cytogenetic evaluation . they had a history of three repeated abortions in the past two years of their married life . the first abortion was four months from pregnancy resulting in a fetus with anencephaly , kyphosis and cephalocele and the second was a blighted ovum at 3 month of pregnancy . two milliliters of peripheral blood was obtained from both partners in heparinised tubes to harvest white blood cells for karyotyping ( 6 , 7 ) . twenty - five metaphases were analyzed and the karyotype was interpreted using the applied imaging software . the chromosomes were identified and classified according to the guidelines by the international system for human cytogenetic nomenclature ( iscn , 1995 ) ( 8) . chromosomal analysis revealed an abnormality in the female partner with 45 , xx , rob ( 14 ; 15 ) ( q10 ; q10 ) chromosomal constitution . the female karyotype revealed 45 chromosomes with missing chromosomes of 14 and 15 , along with an additional chromosome which did not fit into any group of the chromosomes in the karyotype . the banding pattern of the short and long arms of the additional chromosome was similar to chromosome 14 and 15 , thereby indicating the presence of a non - homologous rt . thus , karyotype was confirmed as 45 , xx , rob ( 14;15 ) ( q10:q10 ) as depicted in fig 1 . karyotype of the female with 45 , xx , rob ( 14;15 ) ( q10;q10 ) chromosomal constitution about 15 to 20% of pregnancies end in spontaneous abortion , mostly in the first trimester , the most frequent cause being chromosomal abnormalities , with a prevalence of approximately 50% in spontaneous abortions . the majority of chromosomal anomalies ( 95% ) are numerical , about 60% are trisomies , 20% are represented by x monosomy and another 15% by polyploidy , especially triploidy ( 9 ) . in the case of a numerical chromosomal aberration in the fetus , parental chromosomes are usually normal ; therefore , cytogenetic analysis of the parents is not indicated . apart from numerical aberrations , structural aberrations ( 5% ) of the chromosomes can also be the cause of pregnancy loss and subsequent infertility ( 10 ) . the presence of a balanced chromosomal rearrangement in a parent results in an increased risk for structural chromosomal defects in future pregnancies . it is estimated that in about 70% of couples with at least two spontaneous abortions , one parent carries a balanced chromosomal rearrangement such as inversions , translocation , etc ( 11 ) . in the present study , the observed translocation could be due to either mutation or segregation in the offspring of a balanced carrier . the carrier of a robertsonian translocation has a normal phenotype but is at risk of producing unbalanced gametes and , therefore , unbalanced offspring . in general , the prevalence of chromosomal abnormalities is higher in females than in males . first , it can result from the production of genetically unbalanced gametes , which lead to spontaneous abortions of unbalanced zygotes . second , it can be the consequence of the oogenic disturbances resulting in unviable zygotes ( 12 ) . in the present case , a trivalent configuration in metaphase i of meiosis could have resulted in a monosomic or trisomic condition . during pachytene stage in meiosis i , homologous pairing of robertsonian translocation is achieved by the formation of a trivalent structure . . nevertheless , adjacent segregations result in gametes , which are nullisomic or disomic for one of the chromosomes involved in the rearrangement and consequently a zygote with trisomy or monosomy for one of the involved chromosomes . zygotes with monosomy are not compatible with life and most translocated trisomy concepti are expected to result in early or first trimester losses . however , some survive beyond the second trimester or up to the term ( 13 ) . cytogenetic analysis of couples with recurrent abortions is mandatory to evaluate the probable presence of any chromosomal aberrations . physicians should be aware of the condition as at least 5% of these couples with repeated abortions exhibit chromosomal abnormalities as the cause . such cases have to be analysed as early as possible to arrange for adequate genetic counseling and to allow couples to make an informed reproductive decision regarding subsequent pregnancies .
introductionrobertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population . in this report , we present a nonhomologous robertsonian translocation in a female patient with a history of repeated abortions.case presentationa couple with the complaint of repeated abortions 
 was admitted in the institute of genetics and hospital for genetic diseases in begumpet , hyderabad , india for cytogenetic evaluation . 
 chromosomal analysis of the couple revealed an abnormal karyotype in the female partner with 45 , xx , rob ( 14 , 15 ) ( q10 ; q10 ) chromosomal constitution , while the male partner showed normal 46 , xy karyotype.conclusionthe cytogenetic analysis of couples with repeated abortions is mandatory to identify any probable chromosomal aberrations . 
 prenatal diagnosis should be offered to couples with repeated abortions in the case of future pregnancies .