Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization

KEY CLINICAL MESSAGE: Maternal serum screening–positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fet...

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Autores principales: Namba, Akira, Nishiyama, Miyuki, Weiser, Joseph J, Wyatt, Phillip, Kimura, Machiko, Niizawa, Rei, Miki, Akinori, Ishihara, Osamu, Itakura, Atsuo, Kamei, Yoshimasa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2013
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184748/
https://www.ncbi.nlm.nih.gov/pubmed/25356211
http://dx.doi.org/10.1002/ccr3.22
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author Namba, Akira
Nishiyama, Miyuki
Weiser, Joseph J
Wyatt, Phillip
Kimura, Machiko
Niizawa, Rei
Miki, Akinori
Ishihara, Osamu
Itakura, Atsuo
Kamei, Yoshimasa
author_facet Namba, Akira
Nishiyama, Miyuki
Weiser, Joseph J
Wyatt, Phillip
Kimura, Machiko
Niizawa, Rei
Miki, Akinori
Ishihara, Osamu
Itakura, Atsuo
Kamei, Yoshimasa
author_sort Namba, Akira
collection PubMed
description KEY CLINICAL MESSAGE: Maternal serum screening–positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication of Down syndrome critical region.
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spelling pubmed-41847482014-10-29 Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization Namba, Akira Nishiyama, Miyuki Weiser, Joseph J Wyatt, Phillip Kimura, Machiko Niizawa, Rei Miki, Akinori Ishihara, Osamu Itakura, Atsuo Kamei, Yoshimasa Clin Case Rep Case Reports KEY CLINICAL MESSAGE: Maternal serum screening–positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46,XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication of Down syndrome critical region. BlackWell Publishing Ltd 2013-12 2013-10-09 /pmc/articles/PMC4184748/ /pubmed/25356211 http://dx.doi.org/10.1002/ccr3.22 Text en © 2013 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Namba, Akira
Nishiyama, Miyuki
Weiser, Joseph J
Wyatt, Phillip
Kimura, Machiko
Niizawa, Rei
Miki, Akinori
Ishihara, Osamu
Itakura, Atsuo
Kamei, Yoshimasa
Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
title Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
title_full Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
title_fullStr Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
title_full_unstemmed Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
title_short Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
title_sort prenatal diagnosis of complex rearrangement of chromosome 21: the significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184748/
https://www.ncbi.nlm.nih.gov/pubmed/25356211
http://dx.doi.org/10.1002/ccr3.22
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