%0 Journal Article %A Omori Sarabi, Sadaf %A Karimzad Hagh, Javad %A Behrend, Claudia %A Mohseni, Seyed Behrooz %A Ansari Dezfouli, Mitra %A Rashidi, Seyed Khalil %A Omrani, Mir Davood %T Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods %J Iranian Biomedical Journal %V 24 %N 1 %U http://ibj.pasteur.ac.ir/article-1-2770-en.html %R 10.29252/ibj.24.1.60 %D 2020 %K Partial monosomy 21q, Translocation t(5, 21), Unbalanced autosomal chromosome translocation mosaicism, %X Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a two-year-old affected girl, characterized by mental retardation, dystrophia, hearing impartment, and dysphagia. Methods and Results: Cytogenetic investigation revealed a low mosaic unbalanced translocation of 46,XX,t(5;21)/ 46,XX, which was confirmed by fluorescence in situ hybridization analysis. Studying 200 metaphases and interphases of peripheral blood sample revealed 70% partial monosomy of 21q22 and partial trisomy of 5q(35.3) and 30% of normal pattern. Conclusion: In rare cases such as this study, parents with balanced translocation with no phenotypes may lead to a mosaic unbalanced translocation with abnormal phenotypes in offspring, which underscores the need for prenatal karyotyping and genetics counseling. %> http://ibj.pasteur.ac.ir/article-1-2770-en.pdf %P 60-63 %& 60 %! a Rare Mosaicism in Autosomal Translocation of t(5;21) %9 Case Report %L A-10-1-782 %+ Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran %G eng %@ 1028-852X %[ 2020