Detection of cryptic y chromosome mosaicism by coamplification pcr with archived cytogenetic slides of suspected turner syndrome

ABSTRACT Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a

high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with

Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined.

Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the

Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the

archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients. SIMILAR CONTENT BEING VIEWED BY OTHERS COMPREHENSIVE COPY NUMBER

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CYTOGENETICS Article 26 March 2021 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Laboratory of Medical Genetics, Samsung Cheil Hospital & Women's Healthcare Center,

Medical Research Institute, Sungkyunkwan University, Seoul, Korea Jin Woo Kim Authors * Jin Woo Kim View author publications You can also search for this author inPubMed Google Scholar * Eun

Hee Cho View author publications You can also search for this author inPubMed Google Scholar * Young Mi Kim View author publications You can also search for this author inPubMed Google

Scholar * Jin Mee Kim View author publications You can also search for this author inPubMed Google Scholar * Jung Yeol Han View author publications You can also search for this author

inPubMed Google Scholar * So Yeon Park View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS This is an Open Access article distributed

under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and

reproduction in any medium, provided the original work is properly cited. Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Kim, J., Cho, E., Kim, Y. _et al._ Detection of

cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome. _Exp Mol Med_ 32, 38–41 (2000). https://doi.org/10.1038/emm.2000.7

Download citation * Published: 01 March 2000 * Issue Date: 01 March 2000 * DOI: https://doi.org/10.1038/emm.2000.7 SHARE THIS ARTICLE Anyone you share the following link with will be able to

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initiative KEYWORDS * archived slide * coamplification PCR * Turner syndrome * cryptic Y chromosome