title: Detection of Klinefelter  syndrome by G-banding analysis combined with primed in situ labeling  technique.
abstract: Primed in  situ labeling (PRINS) technique is an alternative to in situ hybridization  for rapid chromosome screening. We employed triple-color PRINS technique to  detect chromosomal abnormalities in Klinefelter syndrome patients diagnosed by  G-banding karyotype analysis. Among 1034 infertile male patients, 134 were  found to be cytogenetically abnormal, including 70 with chromosomal number  abnormalities and 64 with chromosomal structure abnormalities. Among these  cytogenetically abnormal patients, 56 were diagnosed as having Klinefelter  syndrome. PRINS technique was used on cultured lymphocyte metaphase cells of  the Klinefelter syndrome patients; the same result was obtained with G-banding  karyotype analysis. PRINS proved to be a rapid and reliable method to detect  numerical chromosome abnormalities in peripheral blood lymphocytes in  metaphase.
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, Institute of Medical Genetics, Sichuan University, Chengdu, China.
authors.forename: J-L
authors.initials: JL
authors.lastname: Gao
authors.forename: X-P
authors.initials: XP
authors.lastname: Ding
authors.forename: D-S
authors.initials: DS
authors.lastname: Liu
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Zhu
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D020401:Primed In Situ Labeling / Q000379:methods*