Balkan Journal of Medical Genetics

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

RESULTS

One thousand, two hundred and thirty-one infertile men were investigated by classical cytogenetic techniques. Of these, 700 men presented with aligoasthenoteratozoospermia (OATS), 150 azoospermia, 50 oligozoospermia, 10 oligoteratozoospermia, 21 oligoasthenospermia and 300 with normospermia. The control group consisted of 35 fertile men with one or more children. The chromosomal abnormalities identified in the control group and the study group are presented in Table 2. The male factor is responsible for approximately 40.0% of infertility cases [18]. Chromosomal abnormalities are an important cause of male infertility. The incidence of chromosomal abnormalities in infertile men was 2.52%, of which 1.38% were autosomal abnormalities and 1.14% sex chromosomal abnormalities. No chromosomal abnormalities were identified in the control group (Table 2). A total of 964 women with reproductive problems were investigated by classical cytogenetic techniques. Three hundred and fifty had one previous miscarriage, 300 had two miscarriages, 150 had three or more miscarriages and 164 had a history of sterility or abortive disease. The control group consisted of 52 fertile women with one or more children. The chromosomal abnormalities identified in the two groups are presented in Table 3. The incidence of chromosomal abnormalities in our group was 2.49%, of which 1.87% were autosomal abnormalities and 0.62% sex chromosomal abnormalities. The incidence of chromosomal abnormalities in the control group was 1.92% (autosomal abnormalities. Numerical and structural chromosomal abnormalities identified in infertile patients are presented in Tables 4 and 5. In this study, we did a correlation between the incidence of chromosomal anomalies identified in infertile men compared to infertile women and found that there was no statistical significance (Table 6). Cytogenetic analysis revealed a number of chromosomal polymorphisms, considered as normal chromosomal variations, but they have not been investigated in this study.

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