چكيده لاتين :
Background: Turner syndrome (TS) is a sporadic disorder
caused by the absence of all or some parts one X-chromosome
with major developmental consequences such as short stature
and ovarian failure etc. The minor manifestations of TS are
cubitus valgus, rnicrognatism, high-arched palate, short and/or
webbed neck, hypothyroidism, etc. Different karyotype abnormalities
may lead to different clinical features; therefore, in
this study we have tried to postulate karyotype-phenotype correlations
in these patients.
Methods: In order to assess karyotype-phenotype correlations,
209 proven TS patients were studied and chromosomal
analysis was performed on the basis of G-banding technique
at high resolution.
Results: According to cytogenetic findings, karyotype abnormalities
were classified into four groups: classic form 19%;
mosaic form 76%; long arm isochromosome 4% and short arm
deletion 1%. Clinical manifestations were more severe in classic
TS rather than the other forms of chromosomal abnormalities.
Conclusion: The results of this study suggest that karyotype
variations might affect phenotype of Turner syndrome. Therefore,
chromosomal investigation for all suspected cases of
Turner syndrome should be considered in order to approach an
appropriate treatment protocol.
