title: [Genetic analysis of a child with XYY syndrome mainly featuring mental retardation].
abstract: OBJECTIVE
  To explore the genetic cause for a boy featuring mainly with mental retardation.
  
  
  METHODS
  G-banding karyotyping and fluorescence in situ hybridization (FISH) were carried out for the child and his parents. The child was also analyzed with chromosome microarray (CMA). Suspected microdeletion was validated with quantitative PCR.
  
  
  RESULTS
  The proband was found to have a 47,XYY karyotype by both chromosome and FISH analyses, while both of his parents had a normal karyotype. CMA suggested that the proband had one copy of X chromosome and two copies of Y chromosome. In addition, CMA has also detected deletion of the KYNU gene (mapped at 2q22.2), which could be pathogenic. The result was confirmed by qPCR.
  
  
  CONCLUSIONS
  For its high resolution, CMA can be used to identify potential microdeletion/duplications among children with chromosome aneuploidy and unusual phenotypes.
authors: Pediatric Research Institute, Institute of Pediatric Health Care, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. Email: gaizhongtao@sina.com.
authors: Yi
authors: Y
authors: Liu
authors: Rui
authors: R
authors: Dong
authors: Kaihui
authors: K
authors: Zhang
authors: Ying
authors: Y
authors: Wang
authors: Haiyan
authors: H
authors: Zhang
authors: Yanqing
authors: Y
authors: Zhang
authors: Dongmei
authors: D
authors: Zhao
authors: Zhongtao
authors: Z
authors: Gai
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D014997:XYY Karyotype / Q000175:diagnosis / Q000235:genetics*