Corpus ID: 42060255

Congenital Heart Disease in an Infant with 49 , XXXXY Syndrome 49 , XXXXY Sendromlu Bir Çocukta Konjenital Kalp Hastalığı

  title={Congenital Heart Disease in an Infant with 49 , XXXXY Syndrome 49 , XXXXY Sendromlu Bir Çocukta Konjenital Kalp Hastalığı},
  author={Mustafa Argun and Mustafa Ali Akın and Selim Kurtoğlu and Dilek Sarıca and Abdullah {\"O}zyurt and {\"O}zge Pamukcu and Ali Haydar Baykan},
J Curr Pediatr 2015;13:63-7 Öz 49,XXXXY sendromu, 46,XY’ye ekstra üç X kromozomu eklenmesi ile karakterize nadir görülen cinsiyet kromozom anöploidi hastalığıdır. Klasik bulguları mental retardasyon, hipogonadizm, radioulnar sinostozis triadı olarak tanımlanmıştır. 49,XXXXY sendromunda patent duktus arteriozus, atriyal septal defekt, ventrikuler septal defekt, pulmoner stenoz, Fallot tetralojisi gibi konjenital kalp defektleri bildirilmiştir. Yenidoğan döneminde düşük doğum ağırlığı, kısa boy… Expand

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49, XXXXY syndrome.
  • J. Hou
  • Medicine
  • Chang Gung medical journal
  • 2004
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