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© 2019 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 (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Among human supernumerary marker chromosomes, the occurrence of isodicentric form of 15 origin is relatively well known due to its high frequency, both in terms of gene content and associated clinical symptoms. The associated epilepsy and autism are typically more severe than in cases with interstitial 15q duplication, despite copy number gain of approximately the same genomic region. Other mechanisms besides segmental aneuploidy and epigenetic changes may also cause this difference. Among the factors influencing the expression of members of the GABAA gene cluster, the imprinting effect and copy number differences has been debated. Limited numbers of studies investigate factors influencing the interaction of GABAA cluster homologues. Five isodicentric (15) patients are reported with heterogeneous symptoms, and structural differences of their isodicentric chromosomes based on array comparative genomic hybridization results. Relations between the structure and the heterogeneous clinical picture are discussed, raising the possibility that the structure of the isodicentric (15), which has an asymmetric breakpoint and consequently a lower copy number segment, would be the basis of the imbalance of the GABAA homologues. Studies of trans interaction and regulation of GABAA cluster homologues are needed to resolve this issue, considering copy number differences within the isodicentric chromosome 15.

Details

Title
Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients
Author
Czakó, Márta 1   VIAFID ORCID Logo  ; Till, Ágnes 2 ; Szabó, András 1 ; Ripszám, Réka 2 ; Melegh, Béla 1 ; Hadzsiev, Kinga 1 

 Department of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary; [email protected] (Á.T.); [email protected] (A.S.); [email protected] (R.R.); [email protected] (B.M.); [email protected] (K.H.); Szentágothai Research Centre, H-7624 Pécs, Hungary 
 Department of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary; [email protected] (Á.T.); [email protected] (A.S.); [email protected] (R.R.); [email protected] (B.M.); [email protected] (K.H.) 
First page
4935
Publication year
2019
Publication date
2019
Publisher
MDPI AG
ISSN
16616596
e-ISSN
14220067
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2548599513
Copyright
© 2019 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 (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.