title: [Analysis of chromosomal abnormalities and a report of eight new karyotypes among children in genetic counseling].
abstract: OBJECTIVE
  To study the relationship between abnormal karyotypes and clinical phenotypes among children in genetic counseling in Guangxi Zhuang Autonomous Region, China.
  
  
  METHODS
  We studied 601 children who visited Guangxi Zhuang Autonomous Region Women and Children Care Hospital for genetic counseling between January 2009 and July 2012. Blood samples were cultured routinely for karyotype analysis with G banding as well as clinical analysis.
  
  
  RESULTS
  Out of 601 patients, 329 (54.7%) had chromosomal abnormalities, and 8 new abnormal human karyotypes were found. Among 329 children with abnormal karyotypes, 317 (96.4%) had an abnormal number of chromosomes, and 12 (3.6%) had abnormal chromosomal structure. Abnormal karyotypes were clinically manifested by Down's syndrome (74.5%), growth retardation (10.9%), and mental retardation (3.0%).
  
  
  CONCLUSIONS
  Eight rare abnormal karyotypes were found in the study, providing new resources for the genetic studies and etiological analysis of growth retardation, mental retardation, gonadal dysgenesis, and multiple congenital anomalies in children.
authors.affiliation: Genetic and Metabolic Center Laboratory, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning 530003, China. oushangenetics2012@163.com.
authors.forename: Shan
authors.initials: S
authors.lastname: Ou
authors.forename: Hui
authors.initials: H
authors.lastname: Ou
authors.forename: Bin
authors.initials: B
authors.lastname: Tang
authors.forename: Shao-Ke
authors.initials: SK
authors.lastname: Chen
authors.forename: Yu-Qi
authors.initials: YQ
authors.lastname: Xu
authors.forename: Chen-Guang
authors.initials: CG
authors.lastname: Zheng
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D059785:Karyotype