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. The classic Turner syndrome Turner syndrome is a cytogenetic type and is seen with more severe findings. The structure of the isochromosome i(Xq) is a less frequently observed cytogenetic anomaly and the facts usually have a lighter clinic than the classic Turner syndrome. This article presents a Turner syndrome in the clinically low hair line, a clinically low isocromosome i(Xq) with a lighter clinic with no signs of low hair line, a clear column neck, a brinking chest, a kidney and congenital heart anomaly.