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A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

BACKGROUND: Interstitial duplications distal to 15q13 are very rare. CASE PRESENTATION: 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, b...

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Autores principales: Yuan, Haiming, Meng, Zhe, Zhang, Lina, Luo, Xiangyang, Liu, Liping, Chen, Mengfan, Li, Xinwei, Zhao, Weiwei, Liang, Liyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710046/
https://www.ncbi.nlm.nih.gov/pubmed/26759605
http://dx.doi.org/10.1186/s13039-016-0214-3
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author Yuan, Haiming
Meng, Zhe
Zhang, Lina
Luo, Xiangyang
Liu, Liping
Chen, Mengfan
Li, Xinwei
Zhao, Weiwei
Liang, Liyang
author_facet Yuan, Haiming
Meng, Zhe
Zhang, Lina
Luo, Xiangyang
Liu, Liping
Chen, Mengfan
Li, Xinwei
Zhao, Weiwei
Liang, Liyang
author_sort Yuan, Haiming
collection PubMed
description BACKGROUND: Interstitial duplications distal to 15q13 are very rare. CASE PRESENTATION: 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. CONCLUSION: The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13039-016-0214-3) contains supplementary material, which is available to authorized users.
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spelling pubmed-47100462016-01-13 A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability Yuan, Haiming Meng, Zhe Zhang, Lina Luo, Xiangyang Liu, Liping Chen, Mengfan Li, Xinwei Zhao, Weiwei Liang, Liyang Mol Cytogenet Case Report BACKGROUND: Interstitial duplications distal to 15q13 are very rare. CASE PRESENTATION: 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. CONCLUSION: The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13039-016-0214-3) contains supplementary material, which is available to authorized users. BioMed Central 2016-01-11 /pmc/articles/PMC4710046/ /pubmed/26759605 http://dx.doi.org/10.1186/s13039-016-0214-3 Text en © Yuan et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Yuan, Haiming
Meng, Zhe
Zhang, Lina
Luo, Xiangyang
Liu, Liping
Chen, Mengfan
Li, Xinwei
Zhao, Weiwei
Liang, Liyang
A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
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
title_full A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
title_fullStr A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
title_full_unstemmed A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
title_short A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
title_sort rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710046/
https://www.ncbi.nlm.nih.gov/pubmed/26759605
http://dx.doi.org/10.1186/s13039-016-0214-3
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