title: Rapid detection of sex chromosomal aneuploidies by QF-PCR: application in 200 men with severe oligozoospermia or azoospermia.
abstract: Klinefelter syndrome is the most common genetic cause of severe male factor infertility. Cytogenetic evaluation of metaphase chromosomes generally has a long turnaround time. We describe a reliable molecular genetic method that can be completed in 2 working days to identify the presence of any extra X chromosomes. The quantitative fluorescent (QF) 5-plex PCR includes the amplification of amelogenin, which is present on both sex chromosomes in a biallelic form, a polymorphic short tandem repeat (STR) on the pseudoautosomal region of X and Y (X22), two polymorphic X-specific STRs (DXS6803, DXS6809), and a Y-specific marker (SY134), in a single tube. The presence of an extra X chromosome is recognized either by a supernumerary peak or an increased peak area based on criteria we have developed. The application of the method on 200 patients resulted in the identification of 14 patients (7%) with Klinefelter syndrome or a variant form (2 SRY-positive 46,XX men), as well as an additional patient with 47,XYY karyotype. The QF-PCR method, along with Y chromosome microdeletion testing, can be used as a first-step genetic analysis in azoospermic or severely oligozoospermic patients for the rapid identification of sex chromosome aneuploidies.
authors.affiliation: Laborigo Diagnostics, Budapest, Hungary. fodor.flora@laborigo.hu
authors.forename: Flora
authors.initials: F
authors.lastname: Fodor
authors.forename: Eniko
authors.initials: E
authors.lastname: Kamory
authors.forename: Bela
authors.initials: B
authors.lastname: Csokay
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Kopa
authors.forename: Attila
authors.initials: A
authors.lastname: Kiss
authors.forename: Istvan
authors.initials: I
authors.lastname: Lantos
authors.forename: Timea
authors.initials: T
authors.lastname: Tisza
mesh_terms: D000782:Aneuploidy; D053713:Azoospermia / Q000235:genetics*; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D004247:DNA / Q000097:blood / Q000235:genetics; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012729:Sex Chromosome Aberrations
chemical_list: D004247:DNA