title: Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome.
abstract: A retrospective study was carried out in 152 infertile men to determine the prevalence of sex chromosome abnormalities among non-obstructive azoospermic and severe oligospermic men (n = 51) and to evaluate the feasibility of fluorescence in situ hybridization (FISH) techniques to assess mosaicism in Klinefelter's patients in comparison with conventional cytogenetics. Cytogenetic analysis were performed for 51 infertile men and among 14 chromosomal abnormalities found, nine were compatible with Klinefelter's syndrome. FISH staining with a CEP X/CEP Y probes were performed for Klinefelter's patients and for five of them; testes were biopsied for histopathologic examination. Six Klinefelter's patients showed a non-mosaic 47,XXY and three showed a 47,XXY/46,XY mosaic by G or R banding analysis of 20 cells with a ratio of 17%, 20% and 33%, respectively. FISH analysis confirmed mosaicism in only one patient (the first) in whom a third cells population was found. There was no relationship between the ratios of mosaicism by banding and FISH analysis. Conventional histopathologic findings in five non-mosaic Klinefelter's patients confirm the diagnosis of Sertoli Only Cells syndrome. FISH is recommended in Klinefelter's syndrome to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling.
authors.affiliation: Laboratoire d'histologie, faculté de médecine de Sfax, avenue Magida-Boulila, CP 3028 Sfax, Tunisia. nouha_abdelmoulabouayed@yahoo.fr
authors.forename: Nouha Bouayed
authors.initials: NB
authors.lastname: Abdelmoula
authors.forename: Ahlem
authors.initials: A
authors.lastname: Amouri
authors.forename: Marie-France
authors.initials: MF
authors.lastname: Portnoi
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.forename: Tahia
authors.initials: T
authors.lastname: Boudawara
authors.forename: Mohamed Nabil
authors.initials: MN
authors.lastname: Mhiri
authors.forename: Ali
authors.initials: A
authors.lastname: Bahloul
authors.forename: Tarek
authors.initials: T
authors.lastname: Rebai
mesh_terms: D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D009030:Mosaicism; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D012728:Sex Chromatin / Q000473:pathology; D012729:Sex Chromosome Aberrations; D013737:Testis / Q000473:pathology