[Medical history of female carriers of chromosome aberrations]

The incidence of extragenital and gynecologic diseases, surgical procedures and menstrual, gestational and family histories have been evaluated in 50 female carriers of balanced chromosomal rearrangements (index group) and 33 women without karyotype abnormalities (control group). This study provided criteria for karyotype testing in women. Counseling guidelines were recommended for female carriage of chromosomal anomalies. These recommendations depend on karyotypic presentations of the anomalies in a carrier: alternatives are prenatal diagnosis of the fetal karyotype and adequate contraception (in robertsonian translocation involving homologous chromosomes).