Author/Authors :
Omori Sarabi, Sadaf Paresh Pathobiology and Genetics Laboratory, Tehran, Iran , Karimzad Hagh, Javad Paresh Pathobiology and Genetics Laboratory, Tehran, Iran , Behrend, Claudia Praxisgem für Medizinische Genetik, Düsseldorf, Germany , Mohseni, Behrooz Paresh Pathobiology and Genetics Laboratory, Tehran, Iran , Ansari Dezfouli, Mitra Department of Neuroscience and Addiction Studies - School of Advanced Technologies in Medicines - Tehran University of Medical Science, Tehran, Iran , Rashidi, Khalil Biotechnology Research Center - Semnan University of Medical Science, Semnan, Iran , Omrani, Davood Department of Medical Genetics - Faculty of Medicine Shahid Beheshti University of Medical Science, Tehran, Iran
Abstract :
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.
Keywords :
Unbalanced autosomal chromosome translocation mosaicism , Partial monosomy 21q , Translocation t(5, 21)
