Effects of Karyotype Variations on Phenotype of Patients with Turner Syndrome

Background: turner syndrome (ts) is a sporadic disordercaused by the absence of all or some parts one x-chromosomewith major developmental consequences such as short statureand ovarian failure etc. the minor manifestations of ts arecubitus valgus, rnicrognatism, high-arched palate, short and/orwebbed neck, hypothyroidism, etc. different karyotype abnormalitiesmay lead to different clinical features; therefore, inthis study we have tried to postulate karyotype-phenotype correlationsin these patients.methods: in order to assess karyotype-phenotype correlations,209 proven ts patients were studied and chromosomalanalysis was performed on the basis of g-banding techniqueat high resolution.results: according to cytogenetic findings, karyotype abnormalitieswere classified into four groups: classic form 19%;mosaic form 76%; long arm isochromosome 4% and short armdeletion 1%. clinical manifestations were more severe in classicts rather than the other forms of chromosomal abnormalities.conclusion: the results of this study suggest that karyotypevariations might affect phenotype of turner syndrome. therefore,chromosomal investigation for all suspected cases ofturner syndrome should be considered in order to approach anappropriate treatment protocol.