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Results

We identified a chromosomal abnormality in 43 individuals (16.16%): 20 cases (7.51%) with ST, 13 cases (4.88%) with RSA and 10 cases (3.75%) with SC. The affected partner was female in 23 cases (8.64%) and male in 20 cases (7.51%). AX chromosome (numerical or structural) abnormality was detected in 18 cases (6.76%), most frequent X chromosome monosomy mosaicism in female and trisomy XXY in male; a balanced structural chromosomal abnormality (BSC) was detected in 23 couples (8.64%); in other two males with ST, the karyotype result was 46, XX.

Conclusions

The results of our study are similar to other reported studies and underline the major etiologic role of chromosomal abnormalities in RD and the importance of chromosomal analysis for the etiologic diagnosis and genetic counseling of these patients.