A 47,XXq-Y Klinefelter male.
نویسندگان
چکیده
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 biopsy showed atrophy of the seminiferous tubules. He is the 3rd of 5 children. His mother, two older sisters, and a younger brother and younger sister are apparently normal. His father is no longer alive.
منابع مشابه
Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion.
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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Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall st...
متن کاملMolecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies
BACKGROUND Male sex chromosome aneuploidies are underdiagnosed despite concomitant physical and behavioral manifestations. OBJECTIVE To develop a non-invasive, rapid and high-throughput molecular diagnostic assay for detection of male sex chromosome aneuploidies, including 47,XXY (Klinefelter), 47,XYY, 48,XXYY and 48,XXXY syndromes. METHODS The assay utilizes three XYM and four XA markers t...
متن کاملChromosomal variants in klinefelter syndrome.
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, ...
متن کاملInvestigation of AZF microdeletions in patients with Klinefelter syndrome.
We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and DNA was ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 8 4 شماره
صفحات -
تاریخ انتشار 1971