An Interstitial Deletion at 10q26.2q26.3

We present a case of an interstitial subtelomeric 10q26 deletion in a male child with moderate developmental delay and minor dysmorphic features. Using array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we have detected an interstitial deletion at 10q26.2q26...

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Main Authors:	Iourov, Ivan Y., Vorsanova, Svetlana G., Kurinnaia, Oxana S., Yurov, Yuri B.
Format:	Online
Language:	English
Published:	Hindawi Publishing Corporation 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932651/

id	pubmed-3932651
recordtype	oai_dc
spelling	pubmed-39326512014-03-19 An Interstitial Deletion at 10q26.2q26.3 Iourov, Ivan Y. Vorsanova, Svetlana G. Kurinnaia, Oxana S. Yurov, Yuri B. Case Report We present a case of an interstitial subtelomeric 10q26 deletion in a male child with moderate developmental delay and minor dysmorphic features. Using array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we have detected an interstitial deletion at 10q26.2q26.3 encompassing a 5.8 Mb region and spanning 24 genes. Interestingly, losses of this chromosome 10 region have not been previously associated with a phenotype outcome. According to an in silico evaluation, we have suggested that PPP2R2D and BNIP3 losses are likely a cause of developmental delay in the index patient. Our data allow to speculating that haploinsufficiency of these two genes in 10q26.3, which is usually ignored in the context of chromosome 10q deletions, has a phenotypic effect. Hindawi Publishing Corporation 2014 2014-02-06 /pmc/articles/PMC3932651/ /pubmed/24649379 http://dx.doi.org/10.1155/2014/505832 Text en Copyright © 2014 Ivan Y. Iourov et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Iourov, Ivan Y. Vorsanova, Svetlana G. Kurinnaia, Oxana S. Yurov, Yuri B.
spellingShingle	Iourov, Ivan Y. Vorsanova, Svetlana G. Kurinnaia, Oxana S. Yurov, Yuri B. An Interstitial Deletion at 10q26.2q26.3
author_facet	Iourov, Ivan Y. Vorsanova, Svetlana G. Kurinnaia, Oxana S. Yurov, Yuri B.
author_sort	Iourov, Ivan Y.
title	An Interstitial Deletion at 10q26.2q26.3
title_short	An Interstitial Deletion at 10q26.2q26.3
title_full	An Interstitial Deletion at 10q26.2q26.3
title_fullStr	An Interstitial Deletion at 10q26.2q26.3
title_full_unstemmed	An Interstitial Deletion at 10q26.2q26.3
title_sort	interstitial deletion at 10q26.2q26.3
description	We present a case of an interstitial subtelomeric 10q26 deletion in a male child with moderate developmental delay and minor dysmorphic features. Using array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we have detected an interstitial deletion at 10q26.2q26.3 encompassing a 5.8 Mb region and spanning 24 genes. Interestingly, losses of this chromosome 10 region have not been previously associated with a phenotype outcome. According to an in silico evaluation, we have suggested that PPP2R2D and BNIP3 losses are likely a cause of developmental delay in the index patient. Our data allow to speculating that haploinsufficiency of these two genes in 10q26.3, which is usually ignored in the context of chromosome 10q deletions, has a phenotypic effect.
publisher	Hindawi Publishing Corporation
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932651/
_version_	1612061159105495040

An Interstitial Deletion at 10q26.2q26.3

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