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Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521969/ https://www.ncbi.nlm.nih.gov/pubmed/26247050 http://dx.doi.org/10.1002/mgg3.146 |
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author | Lindgren, Valerie McRae, Anne Dineen, Richard Saulsberry, Alexandria Hoganson, George Schrift, Michael |
author_facet | Lindgren, Valerie McRae, Anne Dineen, Richard Saulsberry, Alexandria Hoganson, George Schrift, Michael |
author_sort | Lindgren, Valerie |
collection | PubMed |
description | We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies. |
format | Online Article Text |
id | pubmed-4521969 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | John Wiley & Sons, Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-45219692015-08-05 Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications Lindgren, Valerie McRae, Anne Dineen, Richard Saulsberry, Alexandria Hoganson, George Schrift, Michael Mol Genet Genomic Med Original Articles We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities in the region between LCR22 D–E have hearing loss, which has previously been reported only once in association with these abnormalities. We especially note the behavioral/neuropsychiatric problems, including the severity and early onset, in patients with distal 22q11.2 rearrangements. Our patients add to the genotype–phenotype correlations which are still being generated for these chromosomal anomalies. John Wiley & Sons, Ltd 2015-07 2015-04-16 /pmc/articles/PMC4521969/ /pubmed/26247050 http://dx.doi.org/10.1002/mgg3.146 Text en © 2015 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles Lindgren, Valerie McRae, Anne Dineen, Richard Saulsberry, Alexandria Hoganson, George Schrift, Michael Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
title | Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
title_full | Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
title_fullStr | Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
title_full_unstemmed | Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
title_short | Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
title_sort | behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521969/ https://www.ncbi.nlm.nih.gov/pubmed/26247050 http://dx.doi.org/10.1002/mgg3.146 |
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