http://dspace.bsu.edu.ru/handle/123456789/43130| Title: | Familial translocation t(5;11)(q32;q23) resulting in Jacobsen syndrome and distal trisomy 5q31 in a female patient |
| Authors: | Torres, M. S. Garria, A. G. Lopez, A. C. Martmez, A. B. Rosado, L.A.M. |
| Keywords: | medicine medical genetics Jacobsen syndrome familial translocation partial trisomy 5q 11q deletion |
| Issue Date: | 2019 |
| Citation: | Familial translocation t(5;11)(q32;q23) resulting in Jacobsen syndrome and distal trisomy 5q31 in a female patient / M.S. Torres [и др.] // Научный результат. Сер. Научные результаты биомедицинских исследований. - 2019. - Т.5, №3.-С. 10-14. - DOI: 10.18413/2658-6533-2019-5-3-0-2. |
| Abstract: | A detailed clinical analysis of the patient’s condition was performed. The chromosomes were studied through the GTG-banding analysis and FISH withCri-du-Chat Region Probe - LSI EGR1, LSI D5S23, D5S721 |
| URI: | http://dspace.bsu.edu.ru/handle/123456789/43130 |
| Appears in Collections: | Т. 5, вып. 3 |
| File | Description | Size | Format | |
|---|---|---|---|---|
| Torres_Familial.pdf | 113.33 kB | Adobe PDF | View/Open |
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