title: A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies.
abstract: BACKGROUND
  Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, distinctive facial features, behavior problems, skeletal and genital dysplasia.
  
  
  METHODS
  A de novo 1.6 Mb microdeletion at 19q13.2q13.31 was detected by chromosomal microarray analysis. Haploinsufficiency of the RPS19 gene is known to cause Diamond-Blackfan anemia, other features in this patient are likely due to the deletion of other candidate genes such as PAFAH1B3, ERF, LIPE and GSK3A.
  
  
  CONCLUSIONS
  The deletion detected in our patient overlapped and was significantly smaller than the ones previously reported, which offered the opportunity to further define the critical region for this proposed contiguous gene deletion syndrome.
authors.affiliation: Guangzhou kingmed center for clinical laboratory Co.,Ltd., Guangzhou, 510005 Guangdong China ; KingMed School of Laboratory Medicine Guangzhou Medical University, Guangzhou, 510005 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: Wuhan women and children medical healthcare center, Department of Obstetrics and Gynecology, Wuhan, 430016 Hubei China.
authors.forename: Liping
authors.initials: L
authors.lastname: Liu
authors.affiliation: Guangzhou kingmed center for clinical laboratory Co.,Ltd., Guangzhou, 510005 Guangdong China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Deng
authors.affiliation: Fairmont Preparatory Academy, California, 92801 USA.
authors.forename: Xizi
authors.initials: X
authors.lastname: Hu
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: 19q13.2; Behavior problems; Cognitive impairments; Diamond-Blackfan Anemia; Global developmental delay; Microdeletion