Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents

We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and...

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Autores principales: Cho, Yong-Gon, Park, Tae-Won, Lee, Chang-Seop, Choi, Sam-Im
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2005
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823026/
https://www.ncbi.nlm.nih.gov/pubmed/15861503
http://dx.doi.org/10.3349/ymj.2005.46.2.284
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author Cho, Yong-Gon
Park, Tae-Won
Lee, Chang-Seop
Choi, Sam-Im
author_facet Cho, Yong-Gon
Park, Tae-Won
Lee, Chang-Seop
Choi, Sam-Im
author_sort Cho, Yong-Gon
collection PubMed
description We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.
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spelling pubmed-28230262010-02-17 Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents Cho, Yong-Gon Park, Tae-Won Lee, Chang-Seop Choi, Sam-Im Yonsei Med J Case Report We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed. Yonsei University College of Medicine 2005-04-30 2005-04-30 /pmc/articles/PMC2823026/ /pubmed/15861503 http://dx.doi.org/10.3349/ymj.2005.46.2.284 Text en Copyright © 2005 The Yonsei University College of Medicine http://creativecommons.org/licenses/by-nc/3.0 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 noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Cho, Yong-Gon
Park, Tae-Won
Lee, Chang-Seop
Choi, Sam-Im
Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
title Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
title_full Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
title_fullStr Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
title_full_unstemmed Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
title_short Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
title_sort concurrence of ring 21 and trisomy 21 in children of normal parents
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2823026/
https://www.ncbi.nlm.nih.gov/pubmed/15861503
http://dx.doi.org/10.3349/ymj.2005.46.2.284
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AT choisamim concurrenceofring21andtrisomy21inchildrenofnormalparents

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