title: de novo interstitial deletions at the 11q23.3-q24.2 region.
abstract: BACKGROUND
  Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown.
  
  
  METHODS
  We presented the chromosome microarray (CMA) data and the clinical features of two individuals carrying a non-overlapping de novo deletion each at the 11q23.3-q24.2 region in an effort to analyze the correlation between region of deletion at 11q and phenotype. Both deletions are likely pathogenic for patient's condition. The deletion at 11q23.3q24.1 is associated with short stature, relative microcephaly, failure to thrive, hypotonia and sleeping disorder. The deletion at 11q24.2 involves HEPACAM and our patient's clinical presentation (relative macrocephaly, abnormal MRI, mild developmental delay and seizure) is not inconsistent with Megalencephalic leukoencephalopathy with subcortical cysts 2B.
  
  
  CONCLUSIONS
  Our finds support the notion that more than one critical region at 11q23.3-qter are responsible for the variable clinical presentation of JBS, thus JBS is a true contiguous gene deletion syndrome where multiple loci contributed to the clinical characteristics of JBS. Small interstitial deletions at 11q23.3-q24.2 and their associated unique features also suggest emerging novel genomic disorders.
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Jiasun
authors.initials: J
authors.lastname: Su
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Rongyu
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Jingsi
authors.initials: J
authors.lastname: Luo
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Fan
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Chunyun
authors.initials: C
authors.lastname: Fu
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Xuyun
authors.initials: X
authors.lastname: Hu
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: ShuJie
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Shang
authors.initials: S
authors.lastname: Yi
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China.
authors.forename: Shaoke
authors.initials: S
authors.lastname: Chen
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No59 Xiangzhu Road, Nanning, China ; Department of Laboratory Medicine, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 USA.
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
keywords: Chromosomal microarray; Contiguous gene deletion syndrome; Interstitial deletion; Jacobsen syndrome