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Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome.
Ann Genet. 2004 Apr-Jun; 47(2):163-75.AG

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+Show Affiliations

Laboratoire d'histologie, faculté de médecine de Sfax, avenue Magida-Boulila, CP 3028 Sfax, Tunisia. nouha_abdelmoulabouayed@yahoo.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15183749

Citation

Abdelmoula, Nouha Bouayed, et al. "Cytogenetics and Fluorescence in Situ Hybridization Assessment of Sex-chromosome Mosaicism in Klinefelter's Syndrome." Annales De Genetique, vol. 47, no. 2, 2004, pp. 163-75.
Abdelmoula NB, Amouri A, Portnoi MF, et al. Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome. Ann Genet. 2004;47(2):163-75.
Abdelmoula, N. B., Amouri, A., Portnoi, M. F., Saad, A., Boudawara, T., Mhiri, M. N., Bahloul, A., & Rebai, T. (2004). Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome. Annales De Genetique, 47(2), 163-75.
Abdelmoula NB, et al. Cytogenetics and Fluorescence in Situ Hybridization Assessment of Sex-chromosome Mosaicism in Klinefelter's Syndrome. Ann Genet. 2004 Apr-Jun;47(2):163-75. PubMed PMID: 15183749.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome. AU - Abdelmoula,Nouha Bouayed, AU - Amouri,Ahlem, AU - Portnoi,Marie-France, AU - Saad,Ali, AU - Boudawara,Tahia, AU - Mhiri,Mohamed Nabil, AU - Bahloul,Ali, AU - Rebai,Tarek, PY - 2004/6/9/pubmed PY - 2005/10/7/medline PY - 2004/6/9/entrez SP - 163 EP - 75 JF - Annales de genetique JO - Ann. Genet. VL - 47 IS - 2 N2 - 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. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/15183749/Cytogenetics_and_fluorescence_in_situ_hybridization_assessment_of_sex_chromosome_mosaicism_in_Klinefelter's_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0003399503000686 DB - PRIME DP - Unbound Medicine ER -