Corpus ID: 42060255

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

@inproceedings{Argun2015CongenitalHD,
  title={Congenital Heart Disease in an Infant with 49 , XXXXY Syndrome 49 , XXXXY Sendromlu Bir Çocukta Konjenital Kalp Hastalığı},
  author={M. Argun and M. Akın and S. Kurtoğlu and Dilek Sarıca and A. {\"O}zyurt and {\"O}zge Pamukçu and A. Baykan},
  year={2015}
}
  • M. Argun, M. Akın, +4 authors A. Baykan
  • Published 2015
  • 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… CONTINUE READING

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