title: [Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome].
abstract: OBJECTIVE
  To explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY, +mar and supermale syndrome.
  
  
  METHODS
  Conventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients.
  
  
  RESULTS
  Among these cases, 18 had their small supernumerary marker derived from the Y chromosome. Three were derived from autosomal chromosomes. Those derived from Y chromosome were small fragments with centromeres, while those derived from autosomes were in the ring form.
  
  
  CONCLUSIONS
  In children with supermale syndrome and 47,XYY/47,XY,+ mar, the supernumerary marker chromosomes primarily derive from sex chromosomes. These small chromosomes mainly have the forms of small segments with centromeres or rings. For such children, molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis.
authors.affiliation: Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, P.R.China. df13607670608@163.com.
authors.forename: Yinsen
authors.initials: Y
authors.lastname: Song
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Jin
authors.forename: Ding
authors.initials: D
authors.lastname: Zhao
authors.forename: Zhenxin
authors.initials: Z
authors.lastname: Guo
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D025064:Sex Chromosome Disorders / Q000235:genetics*; D014997:XYY Karyotype / Q000235:genetics*