نتایج جستجو برای: klinefelter syndrome

تعداد نتایج: 621989  

Journal: :Neurologia medico-chirurgica 2009
Takashi Sasayama Katsu Mizukawa Yoshio Sakagami Takashi Mizowaki Kazuhiro Tanaka Chiho Ohbayashi Kiyoshi Mori Sohei Kitazawa Eiji Kohmura

A 54-year-old man with Klinefelter syndrome presented with glioblastoma multiforme manifesting as a 2-week history of motor weakness of the bilateral extremities. Magnetic resonance imaging showed multiple heterogeneously enhanced tumors in the bilateral frontal lobes. Angiography showed no tumor stain or arteriovenous shunt. The tumor was partially removed through a right craniotomy. The histo...

2016
Hongjuan Fang Jian Xu Huanwen Wu Hong Fan Liyong Zhong

Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in male population, which demonstrates an unusual association with acromegaly. We herein present a rare case involving the confirmation of KS 2 years after surgical treatment for acromegaly.A 27-year-old man presented with an acromegalic appearance. Endocrinological examination revealed a high growth hormone (GH) concentration,...

2017
Ali Al Kaissi Sergey Ryabykh Polina Ochirova Vladimir Kenis Jochen G. Hofstätter Franz Grill Rudolf Ganger Susanne Gerit Kircher

Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in ...

2014
Kuniki Kawaguchi Takayuki Nakamura Masayuki Nohara Satoko Koteda Kei Nomura Satoshi Morishige Eijiro Oku Rie Imamura Fumihiko Mouri Ritsuko Seki Koichi Osaki Michitoshi Hashiguchi Kohji Yoshimoto Koji Nagafuji Takashi Okamura

A 65-year-old Japanese male with therapy-related myelodysplastic syndrome was admitted for unrelated cord blood transplantation. A cord blood unit from a male donor was obtained from the Japan Cord Blood Bank Network. The patient then received a conditioning regimen consisting of fludarabine, intravenous busulfan, and total body irradiation. Successful engraftment was obtained. The bone marrow ...

Journal: :Orphanet Journal of Rare Diseases 2006
Jeannie Visootsak John M Graham

The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY b...

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