RECURRENT MISCARRIAGE IN A NOVEL TRANSLOCATION 7; 9 CARRIERS WITH NO INFERTILITY

A balanced translocation between the short arm of chromosome 7 and the long arm of chromosome 9 was observed in a pedigree of three carriers (proband, his daugther and first cousin). In this study, the proband and first cousin have no infertility problems, they had phenotypically normal progeny but shows recurrent miscarriage. Cytogenetic analysis of metaphase chromosomes was performed, the karyotype of the proband carrier was determined as 46, XY, t(7;9)(7pter 7p12;9qter 9q34::7p12 7qter). The study of this family is important because to our knowledge there have not previous report with the same translocation, and it has been transmitted through generations. In conclusion, the most striking finding was the nonexistence of unbalanced offspring after detecting a structural chromosome abnormality in the parents. To understand the cytogenetic and clinical significance of this case the authors discuss the possible causes of recurrent miscarriage. Detection of chromosomal abnormalities in spontaneous abortion materials is very important to clarify the causes of loss of pregnancy. The evaluation of the incidence of segregation products of balanced translocation in sperm nuclei of carriers can be evaluated by FISH, using the proper combination of probes, and will give patients more accurate genetic advice and helps to personalize the reproductive risk in male carriers of balanced translocation 7:9.