Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy
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چکیده
منابع مشابه
Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy
Klinefelter syndrome (KS), with an incidence of 1 in 600 male newborns, is the most common type of X chromosome aneuploidy. Individuals with KS are characterized by tall stature, decreased secondary sexual characteristics, small testicles, gynecomastia, and infertility. About 80% of patients have the karyotype 47,XXY [1]. An extra X chromosome as a sole acquired abnormality has also been report...
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OBJECTIVE This study focuses on variation in brain morphology associated with supernumerary X chromosome and Klinefelter syndrome (KS). Using an unselected birth cohort of KS subjects and high-resolution MRI, the authors investigated the neuroanatomic consequences of the 47,XXY karyotype in the presence and absence of exogenous testosterone supplementation. METHODS Regional brain volumes were...
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OBJECTIVE The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. METHODS Neuropsychological evaluation of general cognitive ability, language, memory, attention, visual-spati...
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ژورنال
عنوان ژورنال: Annals of Laboratory Medicine
سال: 2013
ISSN: 2234-3806,2234-3814
DOI: 10.3343/alm.2013.33.4.297