A case presentation of Turner's Syndrome with X isochromosome

Abstract

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.