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J Assist Reprod Genet. 2013 Mar;30(3):407-12. doi: 10.1007/s10815-012-9927-3. Epub 2013 Jan 9.

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

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1
Center for Reproductive Medicine, The First Bethune Hospital of Jilin University, Changchun, Jilin, China.

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.

PMID:
23299637
PMCID:
PMC3607675
DOI:
10.1007/s10815-012-9927-3
[Indexed for MEDLINE]
Free PMC Article
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