title: Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.
abstract: BACKGROUND
  Increasing number of cases with small supernumerary marker chromosomes (sSMCs) without centromeric DNA and dozens of cases with trisomy 2q3 have been reported in recent years. However, cases of simultaneous sSMC and partial trisomy of chromosome 2q have been rarely described.
  
  
  RESULTS
  We report the case of a young girl patient with growth retardation and mild facial features due to a partial trisomy 2q33.3-37.3. The 34.3 Mb-duplication of the 2q33.3 to q37.3 region found in the patient constituted a supernumerary inverted duplicated neocentric marker chromosome.
  
  
  CONCLUSIONS
  This is the first case of a patient with partial trisomy 2q33.3-37.3 presenting an inverted duplicated neocentric marker chromosome. Based on the case, this study will help further understanding the genotype/phenotype correlations of partial 2q3 duplication and exploring the relationship between neocentric sSMC and human diseases.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Ruiyu
authors.initials: R
authors.lastname: Ma
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Yanghui
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Guizhi
authors.initials: G
authors.lastname: Tang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Jiazhen
authors.initials: J
authors.lastname: Chang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Ruolan
authors.initials: R
authors.lastname: Guo
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Baoheng
authors.initials: B
authors.lastname: Gui
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Yanru
authors.initials: Y
authors.lastname: Huang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China ; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan P.R China.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
keywords: Growth retardation; Neocentromere; Partial trisomy 2q3; SNP array; sSMC