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Open AccessArticle

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients

1
Department of Medical Genetics, Medical School, University of Pécs, H-7624 Pécs, Hungary
2
Szentágothai Research Centre, H-7624 Pécs, Hungary
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(19), 4935; https://doi.org/10.3390/ijms20194935
Received: 30 August 2019 / Revised: 27 September 2019 / Accepted: 3 October 2019 / Published: 5 October 2019
(This article belongs to the Special Issue Chromosome and Karyotype Variation)
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. View Full-Text
Keywords: idic(15) syndrome; array CGH; supernumerary marker chromosome; GABAA gene cluster; CHRNA7; epilepsy; autism spectrum disorder idic(15) syndrome; array CGH; supernumerary marker chromosome; GABAA gene cluster; CHRNA7; epilepsy; autism spectrum disorder
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Czakó, M.; Till, Á.; Szabó, A.; Ripszám, R.; Melegh, B.; Hadzsiev, K. Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients. Int. J. Mol. Sci. 2019, 20, 4935.

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