title: The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes.
abstract: BACKGROUND
  Copy Number Variants (CNVs) is a new molecular frontier in clinical genetics. CNVs in 1p36 are usually pathogenic and have attracted the attention of cytogeneticists worldwide. None of 1p36 triplication has been reported thus far.
  
  
  RESULTS
  We present three patients with CNVs in 1p36. Among them one is the first 1p36 tetrasomy due to a pure microtriplication and the other two are 1p36 microdeletion. Traditional chromosome G-banding technique showed a normal karyotype. Single nucleotide polymorphism (SNP) microarray analysis combined with multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used to identify and confirm the chromosome microdeletion/microtriplication. The facial dysmorphisms of the patient with 1p36 tetrasomy differed from those two patients with 1p36 monosomy. The expression levels of B3GALT6, MIB2, PEX10 and PANK4 in the blood were determined, and differential expressions were observed between the patients and controls.
  
  
  CONCLUSIONS
  Our study shows the first case of 1p36 tetrasomy due to a pure microtriplication in a patient with severe intellectual disability and seizures. The study provides a new resource for studying the mechanisms of microtriplication formation, and provides an evidence that overexpression of the specific genes might be related the specific phenotype of 1p36 microtriplication.
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
authors.forename: Fang
authors.initials: F
authors.lastname: Xu
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China.
authors.forename: Ya-Nan
authors.initials: YN
authors.lastname: Zhang
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
authors.forename: De-Hua
authors.initials: DH
authors.lastname: Cheng
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China ; National Engineering and Research Center of Human Stem Cell, Changsha, 410078 PR China.
authors.forename: Ke
authors.initials: K
authors.lastname: Tan
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
authors.forename: Chang-Gao
authors.initials: CG
authors.lastname: Zhong
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China ; National Engineering and Research Center of Human Stem Cell, Changsha, 410078 PR China.
authors.forename: Guang-Xiu
authors.initials: GX
authors.lastname: Lu
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China ; National Engineering and Research Center of Human Stem Cell, Changsha, 410078 PR China.
authors.forename: Ge
authors.initials: G
authors.lastname: Lin
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, 110# Xiangya Road, Changsha, Hunan 410078 PR China ; Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan 410078 PR China.
authors.forename: Yue-Qiu
authors.initials: YQ
authors.lastname: Tan
keywords: 1p36 microdeletion; 1p36 microtriplication; Copy number variations; Single nucleotide polymorphism microarray