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...

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Main Authors: Lee, Yee Ling, Shuib, Salwati, Wu, Loo Ling
Format: Article
Language:English
Published: International Islamic University Malaysia 2018
Online Access:http://psasir.upm.edu.my/id/eprint/74349/1/Turner%20syndrome%20with%20ring%20x%20chromosome.pdf
http://psasir.upm.edu.my/id/eprint/74349/
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Institution: Universiti Putra Malaysia
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spelling my.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
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
language English
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.
format Article
author Lee, Yee Ling
Shuib, Salwati
Wu, Loo Ling
spellingShingle Lee, Yee Ling
Shuib, Salwati
Wu, Loo Ling
Turner syndrome with ring x chromosome: do they have a distinct phenotype?
author_facet Lee, Yee Ling
Shuib, Salwati
Wu, Loo Ling
author_sort Lee, Yee Ling
title 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_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_sort turner syndrome with ring x chromosome: do they have a distinct phenotype?
publisher International Islamic University Malaysia
publishDate 2018
url http://psasir.upm.edu.my/id/eprint/74349/1/Turner%20syndrome%20with%20ring%20x%20chromosome.pdf
http://psasir.upm.edu.my/id/eprint/74349/
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