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Journal of Assisted Reproduction and Genetics

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Open Access 01-03-2013 | Genetics

45,X mosaicism in northeast China: a clinical report and review of the literature

Authors: Xiang-Yin Liu, Hong-Guo Zhang, Shuang Chen, Rui-Xue Wang, Zhi-Hong Zhang, Rui-Zhi Liu

Published in: Journal of Assisted Reproduction and Genetics | Issue 3/2013

Abstract

Purpose

To explore the prevalence and clinical features, especially the reproductive function, of 45,X mosaicism patients in northeast China.

Methods

GTG-banding was performed on a series of 2,250 patients from our genetic counseling clinic. Each of these patients underwent a physical examination and was interviewed about their medical history and reproductive problems. Literature on 45,X mosaicism was accessed using PubMed and reviewed.

Results

The prevalence of 45,X mosaicism in northeast China is 0.36 % (8/2250), and the mosaic karyotype of our study accounted for 61.54 % (8/13) of Turner syndrome cases. This is comparable with studies from Asia, Europe, South America and other regions. The affected patients showed genital abnormalities, abnormal pregnancy or infertility.

Conclusion

45,X mosaicism is commonly seen in the genetic counseling clinic. Extensive cytogenetic assessment may improve the detection rate in patients with congenital dysplasia, or history of abnormal pregnancy or infertility. Karyotyping plays a key role in prognosis and assisted reproduction or early surgical treatment.

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Title: 45,X mosaicism in northeast China: a clinical report and review of the literature
Authors: Xiang-Yin Liu
Hong-Guo Zhang
Shuang Chen
Rui-Xue Wang
Zhi-Hong Zhang
Rui-Zhi Liu
Publication date: 01-03-2013
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 3/2013
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-012-9927-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

45,X mosaicism in northeast China: a clinical report and review of the literature

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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