چكيده لاتين :
Background: Carr iers of translocations may have an increased risk of an unbalanced
pr geny due to imbalances and delays in meiosis.
Case: A 24-year-old pregnant Iranian female was referred to the Genetic Department of
Yazd linical 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 I I days old.
The cytogenetic analysis showed that the woman is a carrier of chromosomal
translocation 46. XX, t (3; 22) (q21 ; q12), while her husbandיs karyotype was found to
b normal. The karyotype of her mother showed the same translocation . The risk of
further mise rriages 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 babyיs phenotype was normal. She received routine
tr atment successfully and after 15 days she was discharged from the hospital in a good
condition. The babyיs karyotype showed the same translocation as her mother and
grandmoth r.
Conclusion: To our knowledge, no translocation with such breakpoints t (3; 22) (q2 l ;
q 12) has been described previously in the women with RPL.
