Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and trombocytopenia
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| Format: | Artículo científico |
| Language: | en |
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Vilniaus Universitetas
2012
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| _version_ | 1876444491664064512 |
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| author | Vaidas Dirsė |
| author_facet | Vaidas Dirsė |
| contents | Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and trombocytopenia Vaidas Dirsė Loreta Cimbalistienė Jūratė Kasnauskienė Vaidutis Kučinskas Medicina array CGH Jacobsen syndrome subtelomeric FISH Background. Jacobsen syndrome is a rare syndrome with variable phenotypic expression depending on the breakpoints and the size of 11q deletion. There is presented a wide range of phenotypes of varying severity. Detailed molecular cytogenetic analysis leads to better knowledge of genetic causes of this syndrome. Materials and methods. Molecular cytogenetic analysis using subtelomeric FISH and array CGH was performed for a patient with Jacobsen syndrome. Results. Subtelomeric FISH detected an unbalanced translocation 46,XY,der(11)t(11;13)(q24.2;p11.2) of our patient. Array CGH analysis revealed a 13.95 Mb terminal deletion of the 11q23.3 region (breakpoint positions 120, 505, 418–134, 452, 384, NCBI build 36). FISH and GTG banding analysis identified a balanced translocation 46,XX,t(11;13) (q24.2;p11.2) of patient’s mother. Conclusions. The results of this case report suggest the need of combining both molecular cytogenetic methods: array CGH and FISH for precise analysis of patients with Jacobsen syndrome. 2012 artículo científico 2029-4174 https://www.redalyc.org/articulo.oa?id=694074045003 en http://www.redalyc.org/revista.oa?id=6940 Acta medica Lituanica application/pdf Vilniaus Universitetas Acta medica Lituanica (Lituania) Num.1 Vol.19 |
| format | Artículo científico |
| id | redalyc_694074045003 |
| institution | Redalyc |
| language | en |
| publishDate | 2012 |
| publisher | Vilniaus Universitetas |
| spellingShingle | Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and trombocytopenia Vaidas Dirsė Medicina array CGH Jacobsen syndrome subtelomeric FISH Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and trombocytopenia Vaidas Dirsė Loreta Cimbalistienė Jūratė Kasnauskienė Vaidutis Kučinskas Medicina array CGH Jacobsen syndrome subtelomeric FISH Background. Jacobsen syndrome is a rare syndrome with variable phenotypic expression depending on the breakpoints and the size of 11q deletion. There is presented a wide range of phenotypes of varying severity. Detailed molecular cytogenetic analysis leads to better knowledge of genetic causes of this syndrome. Materials and methods. Molecular cytogenetic analysis using subtelomeric FISH and array CGH was performed for a patient with Jacobsen syndrome. Results. Subtelomeric FISH detected an unbalanced translocation 46,XY,der(11)t(11;13)(q24.2;p11.2) of our patient. Array CGH analysis revealed a 13.95 Mb terminal deletion of the 11q23.3 region (breakpoint positions 120, 505, 418–134, 452, 384, NCBI build 36). FISH and GTG banding analysis identified a balanced translocation 46,XX,t(11;13) (q24.2;p11.2) of patient’s mother. Conclusions. The results of this case report suggest the need of combining both molecular cytogenetic methods: array CGH and FISH for precise analysis of patients with Jacobsen syndrome. 2012 artículo científico 2029-4174 https://www.redalyc.org/articulo.oa?id=694074045003 en http://www.redalyc.org/revista.oa?id=6940 Acta medica Lituanica application/pdf Vilniaus Universitetas Acta medica Lituanica (Lituania) Num.1 Vol.19 |
| title | Report of Jacobsen syndrome with a mild facial dysmorphism, severe hearing impairment and trombocytopenia |
| topic | Medicina array CGH Jacobsen syndrome subtelomeric FISH |
| url | https://www.redalyc.org/articulo.oa?id=694074045003 |