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Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.
Eur J Med Genet. 2006 Jul-Aug; 49(4):331-7.EJ

Abstract

Klinefelter syndrome represents the most commonly found human sex chromosomal abnormality. It is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Males with Klinefelter syndrome may have a 47,XXY or a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome, is very rare and so far only 10 cases have been described in literature [1,2,5,8,10,15,22,23,25,44]. We report here a case of a mosaic 47,XXY/46,XX infertile male in whom detailed cytogenetic, histological and molecular studies were performed. Cytogenetic analysis revealed 80% and 50% mosaicism for the 46,XX cell line in blood lymphocytes and in skin fibroblasts, respectively, and the presence of 47,XXY cells only, in cultured testicular tissue. Testicular histopathology revealed atrophy of the testes with no spermatogenesis and absence of germ cells. Molecular analysis showed paternal inheritance of the extra X chromosome.

Authors+Show Affiliations

Department of Genetics and Molecular Biology, "Mitera" General, Maternity and Pediatric Clinic, 6, Erythrou Stavrou and Kifissias Avenue, Maroussi, 15123 Athens, Greece. voulavel@mitera.grNo 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

16829354

Citation

Velissariou, V, et al. "Rare XXY/XX Mosaicism in a Phenotypic Male With Klinefelter Syndrome: Case Report." European Journal of Medical Genetics, vol. 49, no. 4, 2006, pp. 331-7.
Velissariou V, Christopoulou S, Karadimas C, et al. Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report. Eur J Med Genet. 2006;49(4):331-7.
Velissariou, V., Christopoulou, S., Karadimas, C., Pihos, I., Kanaka-Gantenbein, C., Kapranos, N., Kallipolitis, G., & Hatzaki, A. (2006). Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report. European Journal of Medical Genetics, 49(4), 331-7.
Velissariou V, et al. Rare XXY/XX Mosaicism in a Phenotypic Male With Klinefelter Syndrome: Case Report. Eur J Med Genet. 2006 Jul-Aug;49(4):331-7. PubMed PMID: 16829354.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report. AU - Velissariou,V, AU - Christopoulou,S, AU - Karadimas,C, AU - Pihos,I, AU - Kanaka-Gantenbein,C, AU - Kapranos,N, AU - Kallipolitis,G, AU - Hatzaki,A, Y1 - 2005/10/21/ PY - 2005/04/15/received PY - 2005/09/20/accepted PY - 2006/7/11/pubmed PY - 2006/9/29/medline PY - 2006/7/11/entrez SP - 331 EP - 7 JF - European journal of medical genetics JO - Eur J Med Genet VL - 49 IS - 4 N2 - Klinefelter syndrome represents the most commonly found human sex chromosomal abnormality. It is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Males with Klinefelter syndrome may have a 47,XXY or a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome, is very rare and so far only 10 cases have been described in literature [1,2,5,8,10,15,22,23,25,44]. We report here a case of a mosaic 47,XXY/46,XX infertile male in whom detailed cytogenetic, histological and molecular studies were performed. Cytogenetic analysis revealed 80% and 50% mosaicism for the 46,XX cell line in blood lymphocytes and in skin fibroblasts, respectively, and the presence of 47,XXY cells only, in cultured testicular tissue. Testicular histopathology revealed atrophy of the testes with no spermatogenesis and absence of germ cells. Molecular analysis showed paternal inheritance of the extra X chromosome. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/16829354/Rare_XXY/XX_mosaicism_in_a_phenotypic_male_with_Klinefelter_syndrome:_case_report_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(05)00135-7 DB - PRIME DP - Unbound Medicine ER -