Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay

A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongen...

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Autores principales: Tayeh, Marwan K, Rocco, Tracy, Ackley, Todd, Ernst, Leslie, Glover, Thomas, Innis, Jeffrey W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498850/
https://www.ncbi.nlm.nih.gov/pubmed/26185636
http://dx.doi.org/10.1002/ccr3.241
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author Tayeh, Marwan K
Rocco, Tracy
Ackley, Todd
Ernst, Leslie
Glover, Thomas
Innis, Jeffrey W
author_facet Tayeh, Marwan K
Rocco, Tracy
Ackley, Todd
Ernst, Leslie
Glover, Thomas
Innis, Jeffrey W
author_sort Tayeh, Marwan K
collection PubMed
description A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors.
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spelling pubmed-44988502015-07-16 Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay Tayeh, Marwan K Rocco, Tracy Ackley, Todd Ernst, Leslie Glover, Thomas Innis, Jeffrey W Clin Case Rep Case Reports A patient with developmental delay and nine, de novo, tandem duplications affecting eight different chromosomes that arose on both maternal and paternal chromosomes indicating a vulnerable zygotic or early postzygotic period of development for these errors, potentially affected by genetic and nongenetic factors. John Wiley & Sons, Ltd 2015-06 2015-04-09 /pmc/articles/PMC4498850/ /pubmed/26185636 http://dx.doi.org/10.1002/ccr3.241 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Tayeh, Marwan K
Rocco, Tracy
Ackley, Todd
Ernst, Leslie
Glover, Thomas
Innis, Jeffrey W
Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
title Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
title_full Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
title_fullStr Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
title_full_unstemmed Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
title_short Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
title_sort nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498850/
https://www.ncbi.nlm.nih.gov/pubmed/26185636
http://dx.doi.org/10.1002/ccr3.241
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