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Molecular characterization of a novel ring 6 chromosome using next generation sequencing

Overview of attention for article published in Molecular Cytogenetics, January 2016
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3 tweeters

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6 Dimensions

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11 Mendeley
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Title
Molecular characterization of a novel ring 6 chromosome using next generation sequencing
Published in
Molecular Cytogenetics, January 2016
DOI 10.1186/s13039-016-0245-9
Pubmed ID
Authors

Zhang, Rui, Chen, Xuan, Li, Peiling, Lu, Xiumin, Liu, Yu, Li, Yan, Zhang, Liang, Xu, Mengnan, Cram, David S, Rui Zhang, Xuan Chen, Peiling Li, Xiumin Lu, Yu Liu, Yan Li, Liang Zhang, Mengnan Xu, David S. Cram

Abstract

Karyotyping is the gold standard cytogenetic method for detection of ring chromosomes. In this study we report the molecular characterization of a novel ring 6 (r6) chromosome in a six-year-old girl with severe mental retardation, congenital heart disease and craniofacial abnormalities. Cytogenetic analysis was performed by conventional karyotyping. Molecular genetic analyses were performed using high-resolution chromosome microarray analysis (CMA) and next generation sequencing (NGS). OMIM, UCSC and PubMed were used as reference databases to determine potential genotype to phenotype associations. Peripheral blood and skin fibroblast karyotyping revealed the presence of a dominant cell line, 46,XX,(r6)(p25.3;q27) and a minor cell line 45,XX,-6. Molecular karyotyping using NGS identified 6p25.3 and 6q27 subtelomeric deletions of 1.78 Mb and a 0.56 Mb, respectively. Based on the known genes located within the r6 deletion interval 6q25.3-pter, genotype to phenotype association studies found compelling evidence to suggest that hemizygous expression of disease genes FOXC1, FOXF2, IRF4 and GMDS was the main underlying cause of the patient's phenotype. We further speculate that the severity of the patient's symptoms may have been exacerbated by low-level instability of the r6 chromosome. This is the first report of a novel r6 chromosome characterized at the molecular level using NGS.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 27%
Student > Ph. D. Student 3 27%
Student > Master 2 18%
Professor 1 9%
Student > Bachelor 1 9%
Other 1 9%
Readers by discipline Count As %
Medicine and Dentistry 4 36%
Computer Science 2 18%
Agricultural and Biological Sciences 2 18%
Unspecified 1 9%
Psychology 1 9%
Other 1 9%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 April 2016.
All research outputs
#3,714,115
of 7,607,694 outputs
Outputs from Molecular Cytogenetics
#72
of 224 outputs
Outputs of similar age
#133,113
of 266,627 outputs
Outputs of similar age from Molecular Cytogenetics
#3
of 4 outputs
Altmetric has tracked 7,607,694 research outputs across all sources so far. This one is in the 48th percentile – i.e., 48% of other outputs scored the same or lower than it.
So far Altmetric has tracked 224 research outputs from this source. They receive a mean Attention Score of 1.8. This one has gotten more attention than average, scoring higher than 64% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 266,627 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 46th percentile – i.e., 46% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one.