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Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

Overview of attention for article published in BMC Medical Genomics, May 2018
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3 tweeters

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8 Dimensions

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Title
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Published in
BMC Medical Genomics, May 2018
DOI 10.1186/s12920-018-0368-4
Pubmed ID
Authors

Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang, Xia Zhang, Xiaomin Liu, Xuefan Gu, Yongguo Yu

Abstract

Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier test for DD/ID in general, whereas the diagnostic yield differs significantly among DD/ID patients with different comorbid conditions. To investigate the genotype-phenotype correlation, we examined the characteristics of identified pathogenic copy number variations (pCNVs) and compared the diagnostic yields among patient subgroups with different co-occurring conditions. This study is a retrospective review of CMA results generated from a mixed cohort of 710 Chinese patients with DD/ID. A total of 247 pCNVs were identified in 201 patients (28%). A large portion of these pCNVs were copy number losses, and the size of copy number losses was generally smaller than gains. The diagnostic yields were significantly higher in subgroups with co-occurring congenital heart defects (55%), facial dysmorphism (39%), microcephaly (34%) or hypotonia (35%), whereas co-occurring conditions of skeletal malformation (26%), brain malformation (24%) or epilepsy (24%) did not alter the yield. In addition, the diagnostic yield nominally correlated with ID severity. Varied yields exist in DD/ID patients with different phenotypic presentation. The presence of comorbid conditions can be among factors to consider when planning CMA.

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 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 23 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 26%
Researcher 4 17%
Student > Doctoral Student 3 13%
Student > Bachelor 1 4%
Student > Ph. D. Student 1 4%
Other 1 4%
Unknown 7 30%
Readers by discipline Count As %
Medicine and Dentistry 5 22%
Biochemistry, Genetics and Molecular Biology 4 17%
Nursing and Health Professions 2 9%
Psychology 1 4%
Sports and Recreations 1 4%
Other 3 13%
Unknown 7 30%

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 10 July 2018.
All research outputs
#7,954,917
of 13,205,256 outputs
Outputs from BMC Medical Genomics
#375
of 655 outputs
Outputs of similar age
#150,861
of 270,807 outputs
Outputs of similar age from BMC Medical Genomics
#2
of 2 outputs
Altmetric has tracked 13,205,256 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 655 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 38th percentile – i.e., 38% of its peers scored the same or lower than it.
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 270,807 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 2 others from the same source and published within six weeks on either side of this one.