dc.contributor.author | Cox, Devin M. | |
dc.contributor.author | Butler, Merlin G. | |
dc.date.accessioned | 2020-09-17T13:57:44Z | |
dc.date.available | 2020-09-17T13:57:44Z | |
dc.date.issued | 2015-02-13 | |
dc.identifier.citation | Cox, D.M.; Butler, M.G. The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review. Int. J. Mol. Sci. 2015, 16, 4068-4082. | en_US |
dc.identifier.uri | http://hdl.handle.net/1808/30741 | |
dc.description | A grant from the One-University Open Access Fund at the University of Kansas was used to defray the author's publication fees in this Open Access journal. The Open Access Fund, administered by librarians from the KU, KU Law, and KUMC libraries, is made possible by contributions from the offices of KU Provost, KU Vice Chancellor for Research & Graduate Studies, and KUMC Vice Chancellor for Research. For more information about the Open Access Fund, please see http://library.kumc.edu/authors-fund.xml. | en_US |
dc.description.abstract | Patients with the 15q11.2 BP1–BP2 microdeletion can present with developmental and language delay, neurobehavioral disturbances and psychiatric problems. Autism, seizures, schizophrenia and mild dysmorphic features are less commonly seen. The 15q11.2 BP1–BP2 microdeletion involving four genes (i.e., TUBGCP5, CYFIP1, NIPA1, NIPA2) is emerging as a recognized syndrome with a prevalence ranging from 0.57%–1.27% of patients presenting for microarray analysis which is a two to four fold increase compared with controls. Review of clinical features from about 200 individuals were grouped into five categories and included developmental (73%) and speech (67%) delays; dysmorphic ears (46%) and palatal anomalies (46%); writing (60%) and reading (57%) difficulties, memory problems (60%) and verbal IQ scores ≤75 (50%); general behavioral problems, unspecified (55%) and abnormal brain imaging (43%). Other clinical features noted but not considered as common were seizures/epilepsy (26%), autism spectrum disorder (27%), attention deficit disorder (ADD)/attention deficit hyperactivity disorder (ADHD) (35%), schizophrenia/paranoid psychosis (20%) and motor delay (42%). Not all individuals with the deletion are clinically affected, yet the collection of findings appear to share biological pathways and presumed genetic mechanisms. Neuropsychiatric and behavior disturbances and mild dysmorphic features are associated with genomic imbalances of the 15q11.2 BP1–BP2 region, including microdeletions, but with an apparent incomplete penetrance and variable expressivity. | en_US |
dc.description.sponsorship | NICHD (National Institute of Child Health and Human Development) HD02528 | en_US |
dc.publisher | MDPI | en_US |
dc.rights | © 2015 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license. | en_US |
dc.rights.uri | (http://creativecommons.org/licenses/by/4.0/) | en_US |
dc.subject | 15q11.2 BP1–BP2 microdeletion | en_US |
dc.subject | Burnside-Butler syndrome | en_US |
dc.subject | Clinical and behavioral phenotype | en_US |
dc.subject | Chromosome breakpoints BP1 and BP2 | en_US |
dc.subject | Prader-Willi and Angelman syndromes | en_US |
dc.subject | Language and motor delays | en_US |
dc.subject | Autism | en_US |
dc.subject | Review | en_US |
dc.title | The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review | en_US |
dc.title.alternative | The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review | en_US |
dc.type | Article | en_US |
kusw.kuauthor | Cox, Devin M. | |
kusw.kuauthor | Butler, Merlin G. | |
kusw.kudepartment | Psychiatry & Behavioral Sciences | en_US |
kusw.oanotes | Per Sherpa Romeo 9/17/2020:International Journal of Molecular Sciences
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International Journal of Molecular Sciences [English]
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[Close panel below]Record Information
ID
17518
Date Created
23 September 2010 11:54:30 UTC
Last Modified
14 September 2020 12:42:31 UTC
URI
http://v2.sherpa.ac.uk/id/publication/17518 | en_US |
dc.identifier.doi | 10.3390/ijms16024068 | en_US |
dc.identifier.orcid | https://orcid.org/0000-0002-2911-0524 | en_US |
kusw.oaversion | Scholarly/refereed, publisher version | en_US |
kusw.oapolicy | This item meets KU Open Access policy criteria. | en_US |
dc.rights.accessrights | openAccess | en_US |