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dc.contributor.authorCox, Devin M.
dc.contributor.authorButler, Merlin G.
dc.date.accessioned2020-09-17T13:57:44Z
dc.date.available2020-09-17T13:57:44Z
dc.date.issued2015-02-13
dc.identifier.citationCox, 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.urihttp://hdl.handle.net/1808/30741
dc.descriptionA 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.abstractPatients 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.sponsorshipNICHD (National Institute of Child Health and Human Development) HD02528en_US
dc.publisherMDPIen_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.subject15q11.2 BP1–BP2 microdeletionen_US
dc.subjectBurnside-Butler syndromeen_US
dc.subjectClinical and behavioral phenotypeen_US
dc.subjectChromosome breakpoints BP1 and BP2en_US
dc.subjectPrader-Willi and Angelman syndromesen_US
dc.subjectLanguage and motor delaysen_US
dc.subjectAutismen_US
dc.subjectReviewen_US
dc.titleNeuroendoscopic treatment of symptomatic giant Virchow–Robin spacesen_US
dc.title.alternativeThe 15q11.2 BP1–BP2 Microdeletion Syndrome: A Reviewen_US
dc.typeArticleen_US
kusw.kuauthorCox, Devin M.
kusw.kuauthorButler, Merlin G.
kusw.kudepartmentPsychiatry & Behavioral Sciencesen_US
dc.identifier.doi10.3390/ijms16024068en_US
dc.identifier.orcidhttps://orcid.org/0000-0002-2911-0524en_US
kusw.oaversionScholarly/refereed, publisher versionen_US
kusw.oapolicyThis item meets KU Open Access policy criteria.en_US
dc.rights.accessrightsopenAccessen_US


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© 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.
Except where otherwise noted, this item's license is described as: © 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.