ABSTRACT
Background: Robertsonian translocations are structural chromosomal abnormalitiescaused by fusion of two acrocentric chromosomes. In carriers of such translocations,different modes of segregations would result in the formation of either balanced [alternatesegregation mode] or unbalanced [adjacent 1, adjacent 2, and 3:1 segregationmodes] gametes. In addition, there is an increased risk for imprinting disorders intheir offspring. Although it has been estimated that 1/1000 healthy persons carry aRobertsonian translocation, homozygosity for this type of structural chromosomalabnormality has been reported rarely. Most of reported cases are phenotypicallynormal but experience adverse pregnancy outcomes
Case Presentation: In this paper, a report was made on a normal female with a historyof 4 consecutive first trimester fetal losses and a normal son referred to Centerfor Comprehensive Genetics Services, Tehran, Iran, in summer 2015. Cytogeneticanalyses of proband and her infant showed 44,XX, der[13;14][q10;q10]x2 and 45,XY, der[13;14][q10;q10], respectively. Parents of proband have been shown to have45,XY,der[13q;14q] and 45,XX,der[13q;14q] karyotypes, respectively
Conclusion: The present report was in agreement with the few reports of homozygosityfor Robertsonian translocation which demonstrated normal phenotypes forsuch persons and possibility of giving birth to phenotypically normal heterozygotecarriers of Robertsonian translocations