International Journal of

Case Report

     Examination of peripheral blood lymphocytes obtained from the proband’s mother showed the same translocation in the mother as well. Her father showed a normal karyotype 46, XY. The translocation was found in some other family members as well (Figure 2). The translocation was first interpreted by conventional cytogenetic analysis as a t(3;22)(q21;q12) inherited from the mother. 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 hyperbilirubinemia was investigated and it appeared to be a result of ABO incompatibility. It was treated by exchange transfusion and phototherapy. In addition, a systolic murmur (grade II/VI) was heard on chest auscultation and the echocardiography revealed right ventricular cardiomyopathy, which appeared to be secondary to haemolysis and anaemia, as after correction of anaemia the murmur was disappeared and repeated echocardiography became normal. The baby was discharged from the hospital after 15 days in a good condition. The baby’s karyotype showed the same translocation as her mother and grandmother.



Discussion

     Carriers of balanced aberrations have an increased risk of an unbalanced progeny due to imbalances and delays in meiosis (2). There are only few publications presenting translocations involving 3q and 22q. While, there are reports of other translocation in RPL. Joseph and Thomas (1987) reported a balanced reciprocal translocation between chromosomes 1 and 7 in both the husband and his mother in a couple who referred for chromosomal analysis having had three first trimester abortions (7). In addition, defects in chromosomes 3 and 22 are reported to be related to other pathological conditions. Partial trisomies of 22q were reported in connection with congenital abnormalities (8-10). Monosomy 22q was also described resulting in serious dysmorphic features and psychomotor delays (11-12). Translocation t(3;22)(q27;q11) was reported to be related with diffuse non-Hodgkin's lymphoma (13). In addition, T-prolymphocytic leukemia, small cell variant, associated with complex cytogenetic findings including t(3;22)(q21;11.2) (14).
     To our knowledge, no translocation with such breakpoints t(3;22)(q21;q12) has been described previously in the women with RPL. The abnormal karyotype of the proband 46, XX, t (3; 22) (q21; q12) can be regarded as a reason of fertility problems in the investigated couple. The risk of further miscarriages is high due to large segments
of duplication/deletion caused by unequal segregation. In the case that the couples seek more
pregnancy, close monitoring is necessary. In addition more advanced techniques including prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are advisable. These techniques for people suffering recurrent miscarriages are increasingly being performed worldwide (15). In the cases that PND is performed, if the fetus suffers the same balanced translocation as his/her mother, the pregnancy should be continued, but in the cases of larger duplication/deletion, it must be terminated.
 
 
Acknowledgements
 
     The authors wish to thanks Mr Fazli and Mr Khodaee for all their helps.