نتایج جستجو برای: klinefelter

تعداد نتایج: 1325  

Journal: :Journal of Medical Genetics 1971

Journal: :Journal of Medical Genetics 1970

2012
E. Wierda H. J. Reesink H. Bruining O. M. van Delden J. J. Kloek P. Bresser

Klinefelter syndrome (KS) is a frequent genetic disorder due to one or more supernumerary X chromosomes. KS is associated with an increased risk for venous thromboembolic events like deep venous thrombosis and pulmonary embolism. This paper describes a 37-year-old male patient with KS referred to our tertiary center with chronic thromboembolic pulmonary hypertension, and who was successfully tr...

2018

Submit Manuscript | http://medcraveonline.com Abbreviations: AMH: Anti-Mullerian Hormone; AR: Androgen Receptors; ATF3: Activating Transcription Factor 3; CPAs: Congenital Penile Anomalies; CWH: Chordee Without Hypospadias; EDCs: Endocrine Disrupting Chemicals; KFS: Klinefelter Syndrome; LUTS: Lower Urinary Tract Symptoms; MAGPI: Meatal Advancement and Glanuloplasty Incorporated; SMR: Split Med...

Journal: :Sri Lanka Journal of Child Health 2013

2016
Robert Oates

It is currently unclear whether an adolescent with 47,XXY Klinefelter syndrome will be better off having testicular sperm extraction (TESE) performed in an effort to 'preserve fertility' for the future or, alternatively, should be advised to simply wait until adulthood when he and his partner are ready to begin a family. This report will provide data suggesting that there is no obvious 'preserv...

Journal: :Journal of medical genetics 1971
B Erdtmann A A de Freitas R P de Souza F M Salzano

Journal: :Human reproduction 2014
G Tachon G Lefort J Puechberty A Schneider C Jeandel P Boulot O Prodhomme P Meyer S Taviaux I Touitou F Pellestor D Geneviève V Gatinois

We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array compara...

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