Cytogenetic Study for Reciprocal and Robertsonian Translocation

Chung, Sung Ro; Park, Moon Il

Abstract

PURPOSE:This study was aimed to evaluate the incidence of translocation and types of translocations (reciprocal or Robertsonian) in cases of cytogenetic analysis. Method:The incidence of translocation was calculated and types of translocation were classified in 390 individuals who perfomed cytogenetic analysis in Hanyang University Hospital from January, 2005 to February, 2009.
RESULTS
The overall incidence of translocation was 3.1% (12/390). Among these translocations, 8 cases were having reciprocal translocations showing karyotypes of 47,XXY,t(11;22)(q23;q11.2), 46,XY,t(4;8)(q31.1;q11.2), 46,X,inv(Y)(p11.3q11.23),t(8;9)(q24.3;q34.1), 46,XY,t(14;16)(q32;q22), 46,XX,t(6;7)(q27;p11.2), 46,XX,t(1;4)(q25;q33), 46,XX,t(3;5)(q25;q22) and 46,XX,t(1;2)(p36.1;p25.1) in each. Last 4 cases of translocations were Robertsonian translocations showing karyotypes of 45,XY,der (13; 15)(q10;q10), 45,XY,der(13;14)(q10;q10), 45,XY,der(13;14)(q10;q10)and 45,XX,der (22;22)(q10;q10) in each.
CONCLUSION
Although patients are phenotypically normal, they might be balanced translocation carriers. In high risk patients, translocations are more frequent than normal population. Classification of translocation is necessary for further genetic counseling according to the types.