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Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester.
Clin Dysmorphol
April 2017
Departments of aClinical Genetics bPaediatric Endocrinology cFetal Medicine, University Hospitals Bristol NHS Trust dDepartment of Fetal Medicine eCytogenetics Department, Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
Klinefelter syndrome (KS) is a common sex chromosome disorder and is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Among karyotypic variants of KS, mosaicism 47,XXY/46,XX is extremely rare. We report here a case of an 18-year-old boy with a mosaic 47,XXY/46,XX karyotype of peripheral blood diagnosed as KS.
View Article and Find Full Text PDFRare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.
Eur J Med Genet
September 2006
Department of Genetics and Molecular Biology, "Mitera" General, Maternity and Pediatric Clinic, 6, Erythrou Stavrou and Kifissias Avenue, Maroussi, 15123 Athens, Greece.
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.
View Article and Find Full Text PDFA variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.
Exp Mol Pathol
September 1999
Lifespan Academic Medical Center Cytogenetics Laboratory, Department of Pathology, Rhode Island Hospital, Providence, Rhode Island 02903, USA.
Klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of Klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes.
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