PREVALENCE OF CHROMOSOMAL ABNORMALITIES IN INFERTILE COUPLES IN ROMANIA
Mierla D1,*, Malageanu M1, Tulin R1,2, Albu D1,2
*Corresponding Author: Dana Mierla, PhD, Department of Genetics, Life Memorial Hospital, Grivita Street, Bucharest, Romania. Tel: +40-72-147-9083. E-mail: dana_mierla@yahoo.com
page: 23

DISCUSSION

In recent years, more and more studies have shown an increased incidence of chromosomal abnormalities in couples with reproductive disorders [18,19]. Our study was designed to explore the implication of chromosomal abnormalities in infertility in men and women. In this study, the incidence of chromosomal abnormalities in infertile couples is similar to other studies (2.52% in men and 2.49% in women). In our study, the autosomal chromosomal abnormalities consisted of translocations (reciprocal, Robertsonian) and inversions. Autosomal translocations were found in 1.06% of the infertile patients (13 patients), 0.68% (eight cases) were reciprocal translocations between different chromosomes and 0.41% (five men) were Robertsonian translocations. Within this group, the Robertsonian translocation [t(13;14)(q10;q10)] is the most frequent translocation observed in infertile men (0.41%) [8]. Translocations between group D chromosomes represent approximately 75.0% of all Robertsonian translocations [20]. The chromosomal abnormalities play a determining role in infertility with an incidence between 10.0 and 15.0% [21]. The incidence of chromosomal abnormalities in this study is similar to other studies. The identified chromosomal abnormalities at the sex chromosome level are most frequently associated with male infertility. The prevalence of the Klinefelter syndrome is 0.6-1.0% in the general population and up to 10.0% in male infertility [21-23]. In this study, sex chromosomal abnormalities were found in 14 infertile men (1.14%), five with Klinefelter syndrome (47,XXY), a syndrome associated with severe disturbance of the spermatogenesis; two patients with oligozoospermia presented the karyotype 47,XYY, three had karyotype 46,XX, two had 46,X,delY(q), one had an isochromosome of the short arm of chromosome Y and one patient had the normal chromosomal mosaicism 47,XXY,22ps+[15]/46,XY,22ps+[5]. Of the patients with sex chromosomal abnormalities, 3.0% had an infertility from an unknown cause. In this study, Klinefelter syndrome represents one of the most frequent causes of male infertility, similar to the data in the literature [21]. The XYY syndrome is also a common chromosomal abnormality, most men being fertile, but there are also studies suggesting an association with infertility. In this study, we found two patients with this syndrome and one case of cellular mosaicism 47,XXY,22ps+[15]/ 46,XY,22ps+[5] [21]. After Klinefelter syndrome, Yq deletions are also a frequent cause of male infertility [24]. Anomalies of the Y chromosome have been found in this study in three (1.0%) patients with infertility of an unknown cause. Two of these had a deletion of the long arm of the Y chromosome and one had an isochromosome of the short arm of chromosome Y. There were also three reported cases of the XX syndrome in infertile men, with an incidence of 0.24%. In all these cases, the mechanism explaining the male phenotype was translocation of the SRY gene on an X chromosome [13]. This was observed following the interphase and metaphase FISH on the cytogenetic preparations. A high prevalence of chromosomal anomalies (6.0%) was also observed in patients with a history of miscarriages. The genetic etiology for miscarriages includes an unbalanced chromosomal rearrangement that may be the result of a reciprocal translocation in one of the partners [25]. Miscarriages represent an essential cause of female infertility. They can be caused by chromosomal abnormalities such as reciprocal or Robertsonian translocations, as well as by other chromosomal aberrations such as inversions on chromosome 9. The incidence of chromosomal abnormalities in the studied group of infertile women was 2.49%, which is similar to several studies [18]. In 2002, Raziel et al. [13] found an incidence of chromosomal abnormalities in 14.5% of patients. In our study, 1.87% of these abnormalities were autosomal and 0.62% were sex chromosomal abnormalities. Autosomal abnormalities consisted of translocations between different groups of chromosomes, inversions and duplications. Inversions, translocations and duplications seem to be associated with miscarriages. In this study group, inversions were identified at chromosomes 1, 5 and 8 in six patients with a history of miscarriages. The incidence of these pericentric inversions was 0.62%. In 10 cases, autosomal reciprocal translocations were identified at chromosomes 1, 3, 4, 9, 10, 13, 15, 16, 18, 19 and 22, with an incidence of 1.04%, similar to some studies [10]. In this study group, Robertsonian translocations have been found at a reduced frequency (0.10%). The incidence of Robertsonian translocations in female infertility is higher than in this study (0.69%) [10]. In 2001, Gekas et al. [10] conducted a study in 1012 infertile women enrolled in the Intracytoplasmatic Sperm Injection (ICSI) program. They observed an incidence of 4.84% of chromosomal abnormalities, where reciprocal and Robertsonian translocations (0.69%) and inversions (0.69%), had the highest frequencies [10]. In the group of fertile patients, one case of reciprocal translocation with the chromosomal karyotype 46,XX,t(13;16) (q33.3;p12.2) was identified. The childrens’ karyotypes were also determined and it was found that one of the children presented the same structural modification as the mother, the other having a normal karyotype. The chromosomal abnormalities identified at the sex chromosome were found in six infertile women (0.62%), three (o.31%) women were diagnosed with the Turner syndrome in mosaic, one patient (0.10%) presented karyotype 45,X, another (0.10%) karyotype 46,Xi(Xq), and yet another (0.10%) presented karyotype 46,XY (syndrome 46,XY in women). Turner syndrome is one of the most frequent chromosomal abnormalities (1/2500 female newborns). The presence of the Y chromosome was detected in 6.0% of the cases through karyotyping and up to 60.0% throug molecular diagnostics [26]. These patients were also examined using cytogenetic molecular techniques (metaphase and interphase FISH), which led to the observation of the presence of the characteristic signal for chromosomes X and Y, respectively. Of the identical chromosomal abnormalities in the two groups, we point out the structural abnormalities (1.38% of men and 1.87% of women) and the numerical abnormalities (1.14% of men and 0.62% of women). Linking the present chromosomal abnormalities of the two sexes did not lead to any statistical significance (p = 0.96).



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