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Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods
Sadaf Omori Sarabi * , Javad Karimzad Hagh , Claudia Behrend , Seyed Behrooz Mohseni , Mitra Ansari Dezfouli , Seyed Khalil Rashidi , Mir Davood Omrani
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 2-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 FISH 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: Partial monosomy 21q, Translocation t(5, 21), Unbalanced autosomal chromosome translocation mosaicism
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Type of Study: Case Report | Subject: Related Fields
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