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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

BACKGROUND: Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication i...

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Autores principales: Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408925/
https://www.ncbi.nlm.nih.gov/pubmed/18471269
http://dx.doi.org/10.1186/1755-8166-1-8
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author Ballif, Blake C
Theisen, Aaron
Coppinger, Justine
Gowans, Gordon C
Hersh, Joseph H
Madan-Khetarpal, Suneeta
Schmidt, Karen R
Tervo, Raymond
Escobar, Luis F
Friedrich, Christopher A
McDonald, Marie
Campbell, Lindsey
Ming, Jeffrey E
Zackai, Elaine H
Bejjani, Bassem A
Shaffer, Lisa G
author_facet Ballif, Blake C
Theisen, Aaron
Coppinger, Justine
Gowans, Gordon C
Hersh, Joseph H
Madan-Khetarpal, Suneeta
Schmidt, Karen R
Tervo, Raymond
Escobar, Luis F
Friedrich, Christopher A
McDonald, Marie
Campbell, Lindsey
Ming, Jeffrey E
Zackai, Elaine H
Bejjani, Bassem A
Shaffer, Lisa G
author_sort Ballif, Blake C
collection PubMed
description BACKGROUND: Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported. RESULTS: In this study we describe 14 individuals with microdeletions of 3q29, including one family with a mildly affected mother and two affected children, identified among 14,698 individuals with idiopathic mental retardation who were analyzed by array CGH. Eleven individuals had typical 1.6-Mb deletions. Three individuals had deletions that flank, span, or partially overlap the commonly deleted region. Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly. We also identified 19 individuals with duplications of 3q29, five of which appear to be the reciprocal duplication product of the 3q29 microdeletion and 14 of which flank, span, or partially overlap the common deletion region. The clinical features of individuals with microduplications of 3q29 also varied with few common features. De novo and inherited abnormalities were found in both the microdeletion and microduplication cohorts illustrating the need for parental samples to fully characterize these abnormalities. CONCLUSION: Our report demonstrates that array CGH is especially suited to identify chromosome abnormalities with unclear or variable presentations.
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spelling pubmed-24089252008-06-03 Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication Ballif, Blake C Theisen, Aaron Coppinger, Justine Gowans, Gordon C Hersh, Joseph H Madan-Khetarpal, Suneeta Schmidt, Karen R Tervo, Raymond Escobar, Luis F Friedrich, Christopher A McDonald, Marie Campbell, Lindsey Ming, Jeffrey E Zackai, Elaine H Bejjani, Bassem A Shaffer, Lisa G Mol Cytogenet Research BACKGROUND: Interstitial deletions of 3q29 have been recently described as a microdeletion syndrome mediated by nonallelic homologous recombination between low-copy repeats resulting in an ~1.6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported. RESULTS: In this study we describe 14 individuals with microdeletions of 3q29, including one family with a mildly affected mother and two affected children, identified among 14,698 individuals with idiopathic mental retardation who were analyzed by array CGH. Eleven individuals had typical 1.6-Mb deletions. Three individuals had deletions that flank, span, or partially overlap the commonly deleted region. Although the clinical presentations of individuals with typical-sized deletions varied, several features were present in multiple individuals, including mental retardation and microcephaly. We also identified 19 individuals with duplications of 3q29, five of which appear to be the reciprocal duplication product of the 3q29 microdeletion and 14 of which flank, span, or partially overlap the common deletion region. The clinical features of individuals with microduplications of 3q29 also varied with few common features. De novo and inherited abnormalities were found in both the microdeletion and microduplication cohorts illustrating the need for parental samples to fully characterize these abnormalities. CONCLUSION: Our report demonstrates that array CGH is especially suited to identify chromosome abnormalities with unclear or variable presentations. BioMed Central 2008-04-28 /pmc/articles/PMC2408925/ /pubmed/18471269 http://dx.doi.org/10.1186/1755-8166-1-8 Text en Copyright © 2008 Ballif et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Ballif, Blake C
Theisen, Aaron
Coppinger, Justine
Gowans, Gordon C
Hersh, Joseph H
Madan-Khetarpal, Suneeta
Schmidt, Karen R
Tervo, Raymond
Escobar, Luis F
Friedrich, Christopher A
McDonald, Marie
Campbell, Lindsey
Ming, Jeffrey E
Zackai, Elaine H
Bejjani, Bassem A
Shaffer, Lisa G
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
title Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
title_full Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
title_fullStr Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
title_full_unstemmed Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
title_short Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
title_sort expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408925/
https://www.ncbi.nlm.nih.gov/pubmed/18471269
http://dx.doi.org/10.1186/1755-8166-1-8
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