Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages.

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ID: 59688
2019
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Abstract
The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics.
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onur-cura2019unexpectedcytogenetic Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Onur Cura, Duygu;Bora, Elcin;Ozkalayci, Hande;Kirbiyik, Ozgur;Kutbay, Yasar B;Ercal, Derya;Cankaya, Tufan;
Journal cytogenetic and genome research
Year 2019
DOI
10.1159/000500986
URL
Keywords
chromosomal rearrangements conventional cytogenetics mosaic ring chromosome 21 robertsonian (21;21) translocation

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