Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One...
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| Format: | Article |
| Language: | English |
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Shiraz University of Medical Sciences
2018-07-01
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| Series: | Iranian Journal of Medical Sciences |
| Subjects: | |
| Online Access: | http://ijms.sums.ac.ir/index.php/IJMS/article/view/3809 |
| _version_ | 1824023056768565248 |
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| author | Mirela Mačkić-Đurović Meliha Stomornjak-Vukadin Slavka Ibrulj |
| author_facet | Mirela Mačkić-Đurović Meliha Stomornjak-Vukadin Slavka Ibrulj |
| author_sort | Mirela Mačkić-Đurović |
| collection | DOAJ |
| description | We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed trisomy of chromosome 21 and 4% of the cells exhibited a normal female karyotype. Fluorescence in situ hybridization with a locus-specific probe for trisomy 21 and CEP X for monosomy X substantiated the results obtained from karyotyping. Our patient had 2 natural pregnancies, both of which produced children with Down syndrome. In our patient, as is the case with other women with infertility, the necessary routine is cytogenetic analysis (together with genetic counseling). The same analysis can be helpful in implementing assisted reproductive techniques. |
| first_indexed | 2024-12-19T09:29:47Z |
| format | Article |
| id | doaj.art-4c276c2e99ed4d289c1f279e2465d751 |
| institution | Directory Open Access Journal |
| issn | 0253-0716 1735-3688 |
| language | English |
| last_indexed | 2024-12-19T09:29:47Z |
| publishDate | 2018-07-01 |
| publisher | Shiraz University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Medical Sciences |
| spelling | doaj.art-4c276c2e99ed4d289c1f279e2465d7512022-12-21T20:27:42ZengShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-07161735-36882018-07-01434436439Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell LinesMirela Mačkić-Đurović0Meliha Stomornjak-Vukadin1Slavka Ibrulj2Center for Genetics, Faculty of Medicine, University of Sarajevo, Sarajevo, Bosnia and HerzegovinaLaboratory of Human Genetics, Department of Pathology, Cytology and Human Genetics, University Clinical Center Sarajevo, Sarajevo, Bosnia and HerzegovinaCenter for Genetics, Faculty of Medicine, University of Sarajevo, Sarajevo, Bosnia and HerzegovinaWe report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed trisomy of chromosome 21 and 4% of the cells exhibited a normal female karyotype. Fluorescence in situ hybridization with a locus-specific probe for trisomy 21 and CEP X for monosomy X substantiated the results obtained from karyotyping. Our patient had 2 natural pregnancies, both of which produced children with Down syndrome. In our patient, as is the case with other women with infertility, the necessary routine is cytogenetic analysis (together with genetic counseling). The same analysis can be helpful in implementing assisted reproductive techniques.http://ijms.sums.ac.ir/index.php/IJMS/article/view/3809Turner syndromeDown syndromeMosaicismIn situ hybridizationFluorescence |
| spellingShingle | Mirela Mačkić-Đurović Meliha Stomornjak-Vukadin Slavka Ibrulj Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines Iranian Journal of Medical Sciences Turner syndrome Down syndrome Mosaicism In situ hybridization Fluorescence |
| title | Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines |
| title_full | Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines |
| title_fullStr | Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines |
| title_full_unstemmed | Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines |
| title_short | Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines |
| title_sort | turner syndrome a unique mosaic case with 45 x 47 xx 21 46 xx cell lines |
| topic | Turner syndrome Down syndrome Mosaicism In situ hybridization Fluorescence |
| url | http://ijms.sums.ac.ir/index.php/IJMS/article/view/3809 |
| work_keys_str_mv | AT mirelamackicđurovic turnersyndromeauniquemosaiccasewith45x47xx2146xxcelllines AT melihastomornjakvukadin turnersyndromeauniquemosaiccasewith45x47xx2146xxcelllines AT slavkaibrulj turnersyndromeauniquemosaiccasewith45x47xx2146xxcelllines |