A 47,XXq-Y Klinefelter male.

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A 47,XXq-Y Klinefelter male.

Case Report The patient was first seen by one of us (G.N.R.) when he was in St Martha's Hospital being treated for viral hepatitis. He is a dull-looking boy with a rather large build for his age. The lower jaw is prominent, the hands are large, and there is gynaecomastia on both sides. He also shows sinus bradycardia. Body hair has a feminine distribution. The testes are small and soft and a bi...

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Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement 47,XXY. We present a case of a male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found, on karyotype analysis, to have a hitherto undescribed inversion of the long arm of the X chromosome (46,Y,inv(X)(q12q25)). The underlying...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1971

ISSN: 1468-6244

DOI: 10.1136/jmg.8.4.530