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Iranian Biomedical Journal، جلد ۲۴، شماره ۱، صفحات ۶۰-۶۳
عنوان فارسی
چکیده فارسی مقاله
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عنوان انگلیسی Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods
چکیده انگلیسی مقاله 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.
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نویسندگان مقاله | Sadaf Omori Sarabi
Paresh Pathobiology and Genetics Laboratory, Tehran, Iran


| Javad Karimzad Hagh
Paresh Pathobiology and Genetics Laboratory, Tehran, Iran


| Claudia Behrend
Praxisgem für Medizinische Genetik, Düsseldorf, Germany


| Seyed Behrooz Mohseni
Paresh Pathobiology and Genetics Laboratory, Tehran, Iran


| Mitra Ansari Dezfouli
Department of Neuroscience and Addiction Studies, School of Advanced Technologies in Medicines, Tehran University of Medical Science, Tehran, Iran


| Seyed Khalil Rashidi
Biotechnology Research Center, Semnan University of Medical Science, Semnan, Iran


| Mir Davood Omrani
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-782&slc_lang=en&sid=1
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-2017336.pdf
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زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Related Fields
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