Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods
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 translo...
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| Format: | Article |
| Language: | English |
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Pasteur Institute of Iran
2020-01-01
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| Series: | Iranian Biomedical Journal |
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| Online Access: | http://ibj.pasteur.ac.ir/article-1-2770-en.html |
| _version_ | 1818248642735112192 |
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| author | Sadaf Omori Sarabi Javad Karimzad Hagh Claudia Behrend Seyed Behrooz Mohseni Mitra Ansari Dezfouli Seyed Khalil Rashidi Mir Davood Omrani |
| author_facet | Sadaf Omori Sarabi Javad Karimzad Hagh Claudia Behrend Seyed Behrooz Mohseni Mitra Ansari Dezfouli Seyed Khalil Rashidi Mir Davood Omrani |
| author_sort | Sadaf Omori Sarabi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T15:23:51Z |
| format | Article |
| id | doaj.art-04a664bba7fc4f83ad30657dff817d39 |
| institution | Directory Open Access Journal |
| issn | 1028-852X 2008-823X |
| language | English |
| last_indexed | 2024-12-12T15:23:51Z |
| publishDate | 2020-01-01 |
| publisher | Pasteur Institute of Iran |
| record_format | Article |
| series | Iranian Biomedical Journal |
| spelling | doaj.art-04a664bba7fc4f83ad30657dff817d392022-12-22T00:20:17ZengPasteur Institute of IranIranian Biomedical Journal1028-852X2008-823X2020-01-012416063Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH MethodsSadaf Omori Sarabi0Javad Karimzad Hagh1Claudia Behrend2Seyed Behrooz Mohseni3Mitra Ansari Dezfouli4Seyed Khalil Rashidi5Mir Davood Omrani6 Paresh Pathobiology and Genetics Laboratory, Tehran, Iran Paresh Pathobiology and Genetics Laboratory, Tehran, Iran Praxisgem für Medizinische Genetik, Düsseldorf, Germany Paresh Pathobiology and Genetics Laboratory, Tehran, Iran Department of Neuroscience and Addiction Studies, School of Advanced Technologies in Medicines, Tehran University of Medical Science, Tehran, Iran Biotechnology Research Center, Semnan University of Medical Science, Semnan, Iran Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran 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.htmlpartial monosomy 21qtranslocation t(521)unbalanced autosomal chromosome translocation mosaicism |
| spellingShingle | Sadaf Omori Sarabi Javad Karimzad Hagh Claudia Behrend Seyed Behrooz Mohseni Mitra Ansari Dezfouli Seyed Khalil Rashidi Mir Davood Omrani Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods Iranian Biomedical Journal partial monosomy 21q translocation t(5 21) unbalanced autosomal chromosome translocation mosaicism |
| title | Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods |
| title_full | Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods |
| title_fullStr | Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods |
| title_full_unstemmed | Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods |
| title_short | Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods |
| title_sort | characterization of a rare mosaicism in autosomal translocation of t 5 21 using conventional cytogenetics and fish methods |
| topic | partial monosomy 21q translocation t(5 21) unbalanced autosomal chromosome translocation mosaicism |
| url | http://ibj.pasteur.ac.ir/article-1-2770-en.html |
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