Case report - t (3; 22)(q21;q12) in a pregnant woman with two abortions and postnatal death of one offspring

Background: Carriers of translocations may have an increased risk of an unbalanced progeny due to imbalances and delays in meiosis. Case: A 24-year-old pregnant Iranian female was referred to the Genetic Department of Yazd Clinical and Research Centre for Infertility because of her pregnancy history. She had three previous pregnancies, two of which ended in abortion. The one live born infant was a girl who had multiple abnormalities and died when she was 11 days old. The cytogenetic analysis showed that the woman is a carrier of chromosomal translocation 46, XX, t (3; 22) (q21; q12), while her husband's karyotype was found to be normal. The karyotype of her mother showed the same translocation. The risk of further miscarriages was high, and the proband was monitored closely during her pregnancy. After nine months of pregnancy, a normal baby girl weighted 3460 gr was delivered by Caesarean section. Three hours after birth, the baby suffered from jaundice and respiratory distress. The baby's phenotype was normal. She received routine treatment successfully and after 15 days she was discharged from the hospital in a good condition. The baby's karyotype showed the same translocation as her mother and grandmother. Conclusion: To our knowledge, no translocation with such breakpoints t (3; 22) (q21; q12) has been described previously in the women with RPL