A patient with constitutional ring 1 chromosome characterized by SNP array CGH

We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromo...

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Detalles Bibliográficos
Autores principales: Saliganan, Sheila, Lee, Joanna, Wei, Sainan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831404/
https://www.ncbi.nlm.nih.gov/pubmed/27099748
http://dx.doi.org/10.1002/ccr3.522
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author Saliganan, Sheila
Lee, Joanna
Wei, Sainan
author_facet Saliganan, Sheila
Lee, Joanna
Wei, Sainan
author_sort Saliganan, Sheila
collection PubMed
description We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.
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spelling pubmed-48314042016-04-20 A patient with constitutional ring 1 chromosome characterized by SNP array CGH Saliganan, Sheila Lee, Joanna Wei, Sainan Clin Case Rep Case Reports We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization. John Wiley and Sons Inc. 2016-03-21 /pmc/articles/PMC4831404/ /pubmed/27099748 http://dx.doi.org/10.1002/ccr3.522 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Saliganan, Sheila
Lee, Joanna
Wei, Sainan
A patient with constitutional ring 1 chromosome characterized by SNP array CGH
title A patient with constitutional ring 1 chromosome characterized by SNP array CGH
title_full A patient with constitutional ring 1 chromosome characterized by SNP array CGH
title_fullStr A patient with constitutional ring 1 chromosome characterized by SNP array CGH
title_full_unstemmed A patient with constitutional ring 1 chromosome characterized by SNP array CGH
title_short A patient with constitutional ring 1 chromosome characterized by SNP array CGH
title_sort patient with constitutional ring 1 chromosome characterized by snp array cgh
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831404/
https://www.ncbi.nlm.nih.gov/pubmed/27099748
http://dx.doi.org/10.1002/ccr3.522
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