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.
abstract: BACKGROUND
  Interstitial duplications distal to 15q13 are very rare.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.
authors.affiliation: Guangzhou kingmed center for clinical laboratory Co.,Ltd., Guangzhou, 510330 Guangdong China ; KingMed School of Laboratory Medicine Guangzhou Medical University, Guangzhou, 510330 Guangdong China.
authors.forename: Haiming
authors.initials: H
authors.lastname: Yuan
authors.affiliation: Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510120 Guangdong China.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Meng
authors.affiliation: Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510120 Guangdong China.
authors.forename: Lina
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510120 Guangdong China.
authors.forename: Xiangyang
authors.initials: X
authors.lastname: Luo
authors.affiliation: Department of Obstetrics and Gynecology, Wuhan women and children medical healthcare center, Wuhan, 430016 China.
authors.forename: Liping
authors.initials: L
authors.lastname: Liu
authors.affiliation: Guangzhou kingmed center for clinical laboratory Co.,Ltd., Guangzhou, 510330 Guangdong China.
authors.forename: Mengfan
authors.initials: M
authors.lastname: Chen
authors.affiliation: Guangzhou kingmed center for clinical laboratory Co.,Ltd., Guangzhou, 510330 Guangdong China.
authors.forename: Xinwei
authors.initials: X
authors.lastname: Li
authors.affiliation: Guangzhou kingmed center for clinical laboratory Co.,Ltd., Guangzhou, 510330 Guangdong China ; KingMed School of Laboratory Medicine Guangzhou Medical University, Guangzhou, 510330 Guangdong China.
authors.forename: Weiwei
authors.initials: W
authors.lastname: Zhao
authors.affiliation: Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510120 Guangdong China.
authors.forename: Liyang
authors.initials: L
authors.lastname: Liang
keywords: Global developmental delay; Hypogonadism; Intellectual disability; Interstitial duplication15q15.3q21.2; Short stature