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Attention Score in Context
| Title |
Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies
|
|---|---|
| Published in |
Frontiers in Genetics, August 2018
|
| DOI | 10.3389/fgene.2018.00275 |
| Pubmed ID | |
| Authors |
Xiuqing Ji, Qiong Pan, Yan Wang, Yun Wu, Jing Zhou, An Liu, Fengchang Qiao, Dingyuan Ma, Ping Hu, Zhengfeng Xu |
| Abstract |
Background: The phenotype of duplication of 1q21.1 region is variable, ranging from macrocephaly, autism spectrum disorder, congenital anomalies, to a normal phenotype. Few cases have been reported in the literature regarding prenatal diagnosis of 1q21.1 duplication syndrome. The current study presents prenatal diagnosis of 1q21.1 duplication syndrome in three fetuses with ultrasound anomalies. Case presentation: Three fetuses from three unrelated families were included in the study. The prenatal routine ultrasound examination showed nasal bone loss in Fetus 1 and Fetus 3, as well as duodenal atresia in Fetus 2. Chromosomal microarray analysis was performed to provide genetic analysis of amniotic fluid and parental blood samples. The CMA results revealed two de novo duplications of 1.34 and 2.69 Mb at distal 1q21.1 region in two fetuses with absent nasal bone, as well as a maternal inherited 1.35-Mb duplication at distal 1q21.1 in one fetus with duodenal atresia. Conclusions: The phenotype of 1q21.1 duplication syndrome in prenatal diagnosis is variable. The fetuses with nasal bone loss or duodenal atresia may be related to 1q21.1 duplication and chromosomal microarray analysis should be performed. |
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 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 21 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 24% |
| Student > Bachelor | 4 | 19% |
| Student > Ph. D. Student | 3 | 14% |
| Student > Master | 3 | 14% |
| Student > Doctoral Student | 2 | 10% |
| Other | 1 | 5% |
| Unknown | 3 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Psychology | 6 | 29% |
| Medicine and Dentistry | 4 | 19% |
| Biochemistry, Genetics and Molecular Biology | 3 | 14% |
| Mathematics | 1 | 5% |
| Immunology and Microbiology | 1 | 5% |
| Other | 3 | 14% |
| Unknown | 3 | 14% |
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 20 August 2018.
All research outputs
#20,530,891
of 23,100,534 outputs
Outputs from Frontiers in Genetics
#8,778
of 12,152 outputs
Outputs of similar age
#290,758
of 333,688 outputs
Outputs of similar age from Frontiers in Genetics
#184
of 188 outputs
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So far Altmetric has tracked 12,152 research outputs from this source. They receive a mean Attention Score of 3.7. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 188 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.