Turner syndrome with ring x chromosome: do they have a distinct phenotype?
In contrast to classic Turner syndrome, Turner patients with ring X chromosome are associated with distinct dysmorphism and are likely to be mentally impaired. Four Turner patients with ring X chromosome were examined for phenotypic features of Turner syndrome and additional dysmorphism. Both patien...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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International Islamic University Malaysia
2018
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| Online Access: | http://psasir.upm.edu.my/id/eprint/74349/1/Turner%20syndrome%20with%20ring%20x%20chromosome.pdf |
| _version_ | 1796979713562902528 |
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| author | Lee, Yee Ling Shuib, Salwati Wu, Loo Ling |
| author_facet | Lee, Yee Ling Shuib, Salwati Wu, Loo Ling |
| author_sort | Lee, Yee Ling |
| collection | UPM |
| description | In contrast to classic Turner syndrome, Turner patients with ring X chromosome are associated with distinct dysmorphism and are likely to be mentally impaired. Four Turner patients with ring X chromosome were examined for phenotypic features of Turner syndrome and additional dysmorphism. Both patients 1 and 2 are twins with normal intelligence whereas patients 3 and 4 have mental impairment. With the exception of patient 4, the other three patients only have few Turner characteristics. None of the patients have the distinctive dysmorphism previously reported in Turner syndrome with ring X chromosome. Both twins developed spontaneous puberty. Patients 3 and 4 however had no spontaneous puberty. We postulate that this variation may be related to the ring size, the proportion of 45,X and ring X chromosome in cell lines of various body tissues as well as the ability of these rings to be inactivated as a result of lyonisation. |
| first_indexed | 2024-03-06T10:12:57Z |
| format | Article |
| id | upm.eprints-74349 |
| institution | Universiti Putra Malaysia |
| language | English |
| last_indexed | 2024-03-06T10:12:57Z |
| publishDate | 2018 |
| publisher | International Islamic University Malaysia |
| record_format | dspace |
| spelling | upm.eprints-743492020-03-27T04:53:05Z http://psasir.upm.edu.my/id/eprint/74349/ Turner syndrome with ring x chromosome: do they have a distinct phenotype? Lee, Yee Ling Shuib, Salwati Wu, Loo Ling In contrast to classic Turner syndrome, Turner patients with ring X chromosome are associated with distinct dysmorphism and are likely to be mentally impaired. Four Turner patients with ring X chromosome were examined for phenotypic features of Turner syndrome and additional dysmorphism. Both patients 1 and 2 are twins with normal intelligence whereas patients 3 and 4 have mental impairment. With the exception of patient 4, the other three patients only have few Turner characteristics. None of the patients have the distinctive dysmorphism previously reported in Turner syndrome with ring X chromosome. Both twins developed spontaneous puberty. Patients 3 and 4 however had no spontaneous puberty. We postulate that this variation may be related to the ring size, the proportion of 45,X and ring X chromosome in cell lines of various body tissues as well as the ability of these rings to be inactivated as a result of lyonisation. International Islamic University Malaysia 2018 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/74349/1/Turner%20syndrome%20with%20ring%20x%20chromosome.pdf Lee, Yee Ling and Shuib, Salwati and Wu, Loo Ling (2018) Turner syndrome with ring x chromosome: do they have a distinct phenotype? International Medical Journal Malaysia, 17 (3). pp. 99-102. ISSN EISSN: 1823-4631 |
| spellingShingle | Lee, Yee Ling Shuib, Salwati Wu, Loo Ling Turner syndrome with ring x chromosome: do they have a distinct phenotype? |
| title | Turner syndrome with ring x chromosome: do they have a distinct phenotype? |
| title_full | Turner syndrome with ring x chromosome: do they have a distinct phenotype? |
| title_fullStr | Turner syndrome with ring x chromosome: do they have a distinct phenotype? |
| title_full_unstemmed | Turner syndrome with ring x chromosome: do they have a distinct phenotype? |
| title_short | Turner syndrome with ring x chromosome: do they have a distinct phenotype? |
| title_sort | turner syndrome with ring x chromosome do they have a distinct phenotype |
| url | http://psasir.upm.edu.my/id/eprint/74349/1/Turner%20syndrome%20with%20ring%20x%20chromosome.pdf |
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