| Title |
A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
|
|---|---|
| Published in |
Molecular Cytogenetics, January 2016
|
| DOI | 10.1186/s13039-016-0214-3 |
| Pubmed ID | |
| Authors |
Haiming Yuan, Zhe Meng, Lina Zhang, Xiangyang Luo, Liping Liu, Mengfan Chen, Xinwei Li, Weiwei Zhao, Liyang Liang |
| Abstract |
Interstitial duplications distal to 15q13 are very rare. Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well. The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies. |
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 6 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 1 | 17% |
| Student > Postgraduate | 1 | 17% |
| Student > Master | 1 | 17% |
| Unknown | 3 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 1 | 17% |
| Nursing and Health Professions | 1 | 17% |
| Medicine and Dentistry | 1 | 17% |
| Unknown | 3 | 50% |
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 14 January 2016.
All research outputs
#15,354,849
of 22,840,638 outputs
Outputs from Molecular Cytogenetics
#154
of 402 outputs
Outputs of similar age
#231,684
of 394,936 outputs
Outputs of similar age from Molecular Cytogenetics
#12
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