title: [Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH].
abstract: OBJECTIVE
  To investigate the source of the extra small chromosome in a patient with karyotype 45,X[115]/46,X + mar[45]/46,XY[29].
  
  
  METHODS
  The SRYgene was detected by PCR, and the chromosome Y probe that labeled with biotin was detected by fluorescence in situ hybridization.
  
  
  RESULTS
  SRY gene is detected positive and the mar chromosome showed positive signal with FISH in human chromosome Y probe pool.
  
  
  CONCLUSIONS
  The extra small chromosome is part of the chromosome Y.
authors.affiliation: National Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
authors.forename: Zhi-gang
authors.initials: ZG
authors.lastname: Xue
authors.forename: Yu-mei
authors.initials: YM
authors.lastname: Li
authors.forename: Zhong-yuan
authors.initials: ZY
authors.lastname: Yao
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: He-ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Ling-qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Jia-hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D005260:Female; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D012730:Sex Chromosomes; D012733:Sex Differentiation / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics*