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Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype

Overview of attention for article published in Molecular Cytogenetics, June 2015
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Title
Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype
Published in
Molecular Cytogenetics, June 2015
DOI 10.1186/s13039-015-0137-4
Pubmed ID
Authors

Andras Szabo, Marta Czako, Kinga Hadzsiev, Balazs Duga, Katalin Komlosi, Bela Melegh

Abstract

Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications, triplications and supernumerary chromosomes. Most of the reported cases with epilepsy, autism and Prader-Willi/Angelman syndrome are in association with rearrangements of the proximal long arm of chromosome 15. Here we report the first two unrelated Hungarian patients with the same epileptic and dysmorphic features, who were investigated by array comparative genomic hybridization (array CGH). By G-banded karyotype followed by FISH and array CGH we could detect partial tetrasomy of the 15q11.2q13.3 chromosomal region, supporting proximal 15q duplication syndrome. Findings of the array CGH gave fully explanation of the phenotypic features of these patients, including epileptic seizures, delayed development, hyperactivity and craniofacial dysmorphic signs. Besides the described features of isodicentric (15) (idic(15)) syndrome Patient 1. suffered from bigeminic extrasystoles and had postnatal growth retardation, which had been published only in a few articles. Dosage effect of some genes in the concerned genomic region is known, but several genes have no evidence to have dosage dependence. Our results expanded the previous literature data. We assume dosage dependence in the case of CHRNA7 and OTUD7A, which might be involved in growth regulation. On the other hand increased dosage of the KLF13 gene seems to have no direct causal relationship with heart morphology. The genomic environment of the affected genes may be responsible for the observed phenotype.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Portugal 1 3%
Unknown 32 97%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 18%
Student > Ph. D. Student 5 15%
Other 4 12%
Researcher 4 12%
Student > Master 4 12%
Other 6 18%
Unknown 4 12%
Readers by discipline Count As %
Medicine and Dentistry 9 27%
Psychology 5 15%
Biochemistry, Genetics and Molecular Biology 4 12%
Nursing and Health Professions 3 9%
Agricultural and Biological Sciences 2 6%
Other 4 12%
Unknown 6 18%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 June 2015.
All research outputs
#4,396,920
of 5,279,944 outputs
Outputs from Molecular Cytogenetics
#153
of 194 outputs
Outputs of similar age
#150,546
of 186,292 outputs
Outputs of similar age from Molecular Cytogenetics
#7
of 7 outputs
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