title: [Analysis of genetic etiology of a female with 47,XXY syndrome].
abstract: OBJECTIVE
  To explore the genetic cause of a female case with intellectual development disorder.
  
  
  METHODS
  G banding karyotyping was performed for the patient. Following DNA extraction, the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing. qPCR was used to detect the copy numbers of the SRY gene.
  
  
  RESULTS
  The karyotype of the patient was 47,XXY. PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number.
  
  
  CONCLUSIONS
  The female phenotype of the patient is probably due to deletion of the SRY gene on the Y chromosome. This is the first report of 47,XXY female case with deletion of the SRY gene in China.
authors.affiliation: Department of Genetic Metabolic Endocrinology, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com; gaizhongtao@sina.com.
authors.forename: Hongying
authors.initials: H
authors.lastname: Li
authors.forename: Kaihui
authors.initials: K
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Haiyan
authors.initials: H
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
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: D001483:Base Sequence; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D059785:Karyotype; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D012196:Review Literature as Topic; D017422:Sequence Analysis, DNA / Q000379:methods; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid