title: [Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].
abstract: OBJECTIVE
  To screen for genomic copy number variations (CNVs) in two unrelated neonates with multiple congenital abnormalities using Affymetrix SNP chip and try to find the critical region associated with congenital heart disease.
  
  
  METHODS
  Two neonates were tested for genomic copy number variations by using Cytogenetic SNP chip.Rare CNVs with potential clinical significance were selected of which deletion segments' size was larger than 50 kb and duplication segments' size was larger than 150 kb based on the analysis of ChAs software, without false positive CNVs and segments of normal population. The identified CNVs were compared with those of the cases in DECIPHER and ISCA databases.
  
  
  RESULTS
  Eleven rare CNVs with size from 546.6-27 892 kb were identified in the 2 neonates. The deletion region and size of case 1 were 8p23.3-p23.1 (387 912-11 506 771 bp) and 11.1 Mb respectively, the duplication region and size of case 1 were 8p23.1-p11.1 (11 508 387-43 321 279 bp) and 31.8 Mb respectively. The deletion region and size of case 2 were 8p23.3-p23.1 (46 385-7 809 878 bp) and 7.8 Mb respectively, the duplication region and size of case 2 were 8p23.1-p11.21 (12 260 914-40 917 092 bp) and 28.7 Mb respectively. The comparison with Decipher and ISCA databases supported previous viewpoint that 8p23.1 had been associated with congenital heart disease and the region between 7 809 878-11 506 771 bp may play a role in the severe cardiac defects associated with 8p23.1 deletions. Case 1 had serious cardiac abnormalities whose GATA4 was located in the duplication segment and the copy number increased while SOX7 was located in the deletion segment and the copy number decreased.
  
  
  CONCLUSIONS
  The region between 7 809 878-11 506 771 bp in 8p23.1 is associated with heart defects and copy number variants of SOX7 and GATA4 may result in congenital heart disease.
authors.affiliation: Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Mei
authors.affiliation: Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.affiliation: Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Guodong
authors.initials: G
authors.lastname: Zhan
authors.affiliation: Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Huijun
authors.initials: H
authors.lastname: Wang
authors.affiliation: Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Duan
authors.initials: D
authors.lastname: Ma
authors.affiliation: Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Wenhao
authors.initials: W
authors.lastname: Zhou
authors.affiliation: Children's Hospital of Fudan University, Shanghai 201102, China. Email: gyhuang@shmu.edu.cn.
authors.forename: Guoying
authors.initials: G
authors.lastname: Huang
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D014463:Ultrasonography