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The standard diagnostic method is the analysis of the chromosomes' karyotype on [[lymphocyte]]s. In the past, the observation of the [[Barr body]] was common practice, as well.<ref name=Kamischke/> To confirm [[mosaicism]], analysis of the karyotype using [[dermal fibroblast]]s or testicular tissue is also possible.<ref name="pmid10510542">{{cite journal | author = Kurková S, Zemanová Z, Hána V, Mayerová K, Pacovská K, Musilová J, Stĕpán J, Michalová K | title = [Molecular cytogenetic diagnosis of Klinefelter's syndrome in men more frequently detects sex chromosome mosaicism than classical cytogenetic methods] | language = Czech | journal = Cas. Lek. Cesk. | volume = 138 | issue = 8 | pages = 235–8 | date = April 1999 | pmid = 10510542 | doi = | url = | last2 = Zemanová | last3 = Hána | last4 = Mayerová | last5 = Pacovská | last6 = Musilová | last7 = Stĕpán | last8 = Michalová }}</ref>
Other methods may include research of high serum levels of [[gonadotropin]]s (follicle-stimulating hormone and luteinizing hormone), presence of [[azoospermia]], determination of the sex [[chromatin]],<ref name="pmid8085664">{{cite journal | author = Kleinheinz A, Schulze W | title = Klinefelter's syndrome: New and rapid diagnosis by PCR analysis of XIST gene expression | journal = Andrologia | volume = 26 | issue = 3 | pages = 127–129 | year = 1994 | pmid = 8085664 | doi = 10.1111/j.1439-0272.1994.tb00773.x | last2 = Schulze }}</ref> and [[Prenatal development|prenatally]] via [[chorionic villus sampling]] or [[amniocentesis]]. A
===Differential diagnosis===
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