title: [Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome].
abstract: OBJECTIVE
  To investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis.
  
  
  METHODS
  G-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents.
  
  
  RESULTS
  The proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal.
  
  
  CONCLUSIONS
  Clinical phenotype of the patient with ring chromosome 3 mainly depends on the involved genes. It is necessary to combine CMA and karyotyping for the diagnosis of ring chromosome, as CMA can provide more accurate information for variations of the genome.
authors.affiliation: Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com; gaizhongtao@sina.com.
authors.forename: Kaihui
authors.initials: K
authors.lastname: Zhang
authors.forename: Fengling
authors.initials: F
authors.lastname: Song
authors.forename: Dongdong
authors.initials: D
authors.lastname: Zhang
authors.forename: Haiyan
authors.initials: H
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Rui
authors.initials: R
authors.lastname: Dong
authors.forename: Yufeng
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Liu
authors.forename: Zhongtao
authors.initials: Z
authors.lastname: Gai
mesh_terms: D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods; D003582:Cytogenetics / Q000379:methods; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping / Q000379:methods; D012303:Ring Chromosomes; D013577:Syndrome