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Attention Score in Context
| Title |
Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect
|
|---|---|
| Published in |
Molecular Cytogenetics, December 2015
|
| DOI | 10.1186/s13039-015-0209-5 |
| Pubmed ID | |
| Authors |
Jingjing Zhang, Dingyuan Ma, Yan Wang, Li Cao, Yun Wu, Fengchang Qiao, An Liu, Li Li, Ying Lin, Gang Liu, Cuiyun Liu, Ping Hu, Zhengfeng Xu |
| Abstract |
Congenital heart defects (CHD) represent one of the most common birth defects. This study aimed to evaluate the value of multiplex ligation-dependent probe amplification (MLPA) as a tool to detect the copy number variations (CNVs) of 22q11 in fetuses with CHD. A large cohort of 225 fetuses with CHD was screened by fetal echocardiography. Once common chromosome abnormalities in 30 fetuses were screened out by conventional G-banding analysis, the CNVs of chromosome 22q11 in the remaining 195 fetuses were determined by MLPA for prenatal genetic counseling. In 195 CHD fetuses with normal karyotype, 11 cases had pathological CNVs, including 22q11.2 deletion (seven cases), the deletion of 22q11 cat eye syndrome (CES) region (one case), 22q11.2 duplication (one case), 22q13.3 deletion (one case) and 17p13.3 deletion (one case). In total, our findings from MLPA screening represented 4.9 % in our cohort. Among these, three cases were inherited CNVs, and eight cases were de novo. These CNVs were further verified by single nucleotide polymorphism (SNP)-array analysis, and their chromosomal location was refined. This study indicated that MLPA could serve as an effective test for routine prenatal diagnosis of 22q11 in fetuses with CHD. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 25 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 6 | 24% |
| Researcher | 4 | 16% |
| Student > Doctoral Student | 2 | 8% |
| Other | 2 | 8% |
| Student > Ph. D. Student | 2 | 8% |
| Other | 5 | 20% |
| Unknown | 4 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 28% |
| Medicine and Dentistry | 7 | 28% |
| Agricultural and Biological Sciences | 4 | 16% |
| Neuroscience | 2 | 8% |
| Linguistics | 1 | 4% |
| Other | 0 | 0% |
| Unknown | 4 | 16% |
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 30 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
#267,128
of 392,772 outputs
Outputs of similar age from Molecular Cytogenetics
#15
of 29 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 29 others from the same source and published within six weeks on either side of this one. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.