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Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

Overview of attention for article published in Molecular Cytogenetics, December 2015
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Title
Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature
Published in
Molecular Cytogenetics, December 2015
DOI 10.1186/s13039-015-0198-4
Pubmed ID
Authors

Qin Wang, Weiqing Wu, Zhiyong Xu, Fuwei Luo, Qinghua Zhou, Peining Li, Jiansheng Xie

Abstract

The low copy repeats (LCRs) in chromosome 15q11-q13 have been recognized as breakpoints (BP) for not only intrachromosomal deletions and duplications but also small supernumerary marker chromosomes 15, sSMC(15)s, in the forms of isodicentric chromosome or small ring chromosome. Further characterization of copy number changes and methylation patterns in these sSMC(15)s could lead to better understanding of their phenotypic consequences. Routine G-band karyotyping, fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay were performed on two Chinese patients with a sSMC(15). Patient 1 showed an isodicentric 15, idic(15)(q13), containing symmetrically two copies of a 7.7 Mb segment of the 15q11-q13 region by a BP3::BP3 fusion. Patient 2 showed a ring chromosome 15, r(15)(q13), with alternative one-copy and two-copy segments spanning a 12.3 Mb region. The defined methylation pattern indicated that the idic(15)(q13) and the r(15)(q13) were maternally derived. Results from these two cases and other reported cases from literature indicated that combined karyotyping, aCGH and MS-MLPA analyses are effective to define the copy number changes and methylation patterns for sSMC(15)s in a clinical setting. The characterized genomic structure and epigenetic pattern of sSMC(15)s could lead to further gene expression profiling for better phenotype correlation.

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Mendeley readers

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Geographical breakdown

Country Count As %
Unknown 22 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 5 23%
Researcher 3 14%
Student > Doctoral Student 2 9%
Professor > Associate Professor 2 9%
Student > Master 2 9%
Other 3 14%
Unknown 5 23%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 32%
Medicine and Dentistry 5 23%
Nursing and Health Professions 2 9%
Agricultural and Biological Sciences 1 5%
Psychology 1 5%
Other 1 5%
Unknown 5 23%
Attention Score in Context

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 24 December 2015.
All research outputs
#17,779,578
of 22,836,570 outputs
Outputs from Molecular Cytogenetics
#210
of 402 outputs
Outputs of similar age
#264,595
of 389,451 outputs
Outputs of similar age from Molecular Cytogenetics
#14
of 28 outputs
Altmetric has tracked 22,836,570 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 402 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 41st percentile – i.e., 41% of its peers scored the same or lower than it.
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We're also able to compare this research output to 28 others from the same source and published within six weeks on either side of this one. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.