| Title |
22q11 deletion syndrome: current perspective
|
|---|---|
| Published in |
The Application of Clinical Genetics, May 2015
|
| DOI | 10.2147/tacg.s82105 |
| Pubmed ID | |
| Authors |
Bülent Hacıhamdioğlu, Duygu Hacıhamdioğlu, Kenan Delil |
| Abstract |
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for 22q11DS. This syndrome can ultimately affect many organs or systems; therefore, it has a very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS. |
X Demographics
The data shown below were collected from the profiles of 9 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Mexico | 1 | 11% |
| United Kingdom | 1 | 11% |
| United States | 1 | 11% |
| Netherlands | 1 | 11% |
| Ireland | 1 | 11% |
| Unknown | 4 | 44% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 7 | 78% |
| Scientists | 2 | 22% |
Mendeley readers
The data shown below were compiled from readership statistics for 183 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | <1% |
| Unknown | 182 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 34 | 19% |
| Student > Master | 30 | 16% |
| Student > Postgraduate | 17 | 9% |
| Student > Ph. D. Student | 16 | 9% |
| Other | 14 | 8% |
| Other | 34 | 19% |
| Unknown | 38 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 63 | 34% |
| Biochemistry, Genetics and Molecular Biology | 27 | 15% |
| Agricultural and Biological Sciences | 18 | 10% |
| Nursing and Health Professions | 8 | 4% |
| Psychology | 6 | 3% |
| Other | 16 | 9% |
| Unknown | 45 | 25% |
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 13 August 2022.
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#6,385,250
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Outputs from The Application of Clinical Genetics
#1
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#68,930
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Outputs of similar age from The Application of Clinical Genetics
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