| Title |
Chromosome microarray analysis in the investigation of children with congenital heart disease
|
|---|---|
| Published in |
BMC Pediatrics, May 2017
|
| DOI | 10.1186/s12887-017-0863-3 |
| Pubmed ID | |
| Authors |
Xiao-li Wu, Ru Li, Fang Fu, Min Pan, Jin Han, Xin Yang, Yong-ling Zhang, Fa-tao Li, Can Liao |
| Abstract |
Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD). A total of 104 children with CHD with or without multiple congenital anomalies (MCA) or intellectual disabilities/developmental delay (ID/DD) but normal karyotype were investigated using Affymetrix CytoScan HD array. Pathogenic copy number variations (PCNVs) were identified in 29 children (27.9%). The detection rates in children with simple CHD and complex CHD were 31.1% (19/61) and 23.2% (10/43), respectively. The detection rates of PCNVs were 17.9% (7/39), 20% (5/25), 63.2% (12/19) and 23.8% (5/21) in isolated CHD, CHD plus MCA, CHD plus ID/DD, CHD plus MCA and ID/DD, respectively. The PCNVs rate of CHD plus ID/DD was significantly higher than that of isolated CHD. Two genomic loci including 15q11.2 deletion and 1q43-q44 deletion were considered as CHD locus. The DVL1, SKI, STIM1, CTNNA3 and PLN were identified as candidate genes associated with CHD phenotypes. CMA can increase the diagnostic rate and improve the etiological diagnosis in children with CHD. We suggest CMA as a first-tier test in children with CHD, especially in children with CHD plus ID/DD. |
Mendeley readers
The data shown below were compiled from readership statistics for 77 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 77 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 10% |
| Unspecified | 6 | 8% |
| Student > Ph. D. Student | 6 | 8% |
| Student > Master | 6 | 8% |
| Student > Bachelor | 6 | 8% |
| Other | 15 | 19% |
| Unknown | 30 | 39% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 14 | 18% |
| Medicine and Dentistry | 12 | 16% |
| Unspecified | 6 | 8% |
| Agricultural and Biological Sciences | 6 | 8% |
| Immunology and Microbiology | 2 | 3% |
| Other | 7 | 9% |
| Unknown | 30 | 39% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 06 May 2017.
All research outputs
#6,513,700
of 25,654,806 outputs
Outputs from BMC Pediatrics
#1,005
of 3,494 outputs
Outputs of similar age
#94,378
of 325,103 outputs
Outputs of similar age from BMC Pediatrics
#10
of 41 outputs
Altmetric has tracked 25,654,806 research outputs across all sources so far. This one has received more attention than most of these and is in the 74th percentile.
So far Altmetric has tracked 3,494 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has gotten more attention than average, scoring higher than 71% of its peers.
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We're also able to compare this research output to 41 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.