X İzokromozomuna Sahip Turner Sendromlu Bir Olgu Sunumu

Abstract

A Case Presentation of Turner's Syndrome with X Isochromosome Classic Turner's Syndrome which has severe findings is the most common cytogenetic type of Turner's Syndrome. i(Xq) isochromosome is also a common cytogenetic abnormality and cases have generally milder clinics than classic Turner's Syndrome. In this report, we present a case of Turner's Syndrome with a characteristic isochromosome i(Xq) structure which exhibits a milder clinical finding due to the lack of signs such as low posterior hairline, prominent webbed neck, shield chest, kidney and congenital heart abnormalities. Klasik Turner Sendromu Turner Sendromunun en sık görülen sitogenetik tipi olup daha ağır bulgularla seyreder. İzokromozom i(Xq) yapısı ise daha az sıklıkla gözlenen sitogenetik bir anomali olup olgular genelde klasik Turner sendromu'na göre daha hafif bir kliniğe sahiptir. Bu yazıda, klinik olarak düşük saç çizgisi, belirgin yele boyun, kalkan göğüs, böbrek ve konjenital kalp anomalisi bulguları olmayan daha hafif kliniğe sahip izokromozom i(Xq) yapısındaki Turner sendrom'lu bir olgu sunulmaktadır.

Keywords

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References

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