title: Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.
authors.affiliation: Department of Growth and Reproduction, Faculty of Health Sciences, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. lise.aksglaede@rh.regionh.dk
authors.forename: L
authors.initials: L
authors.lastname: Aksglaede
authors.forename: I D
authors.initials: ID
authors.lastname: Garn
authors.forename: M V
authors.initials: MV
authors.lastname: Hollegaard
authors.forename: D M
authors.initials: DM
authors.lastname: Hougaard
authors.forename: E
authors.initials: E
authors.lastname: Rajpert-De Meyts
authors.forename: A
authors.initials: A
authors.lastname: Juul
mesh_terms: D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D059788:Dried Blood Spot Testing / Q000379:methods*; D018628:Gene Dosage; D006801:Humans; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D015997:Neonatal Screening
chemical_list: D004247:DNA