Shereshevsky-Turner Syndrome : Guidelines for the training of interns, 5th year students

Abstract

Shereshevsky-Turner Syndrome (SST) is caused by full or partial X-mono-somy, presented in all or part of the cells of the body. The relationship of the disease with a violation of the X chromosome was established by Ford in 1959. This chromosomal disease occurs with a frequency of 1 : 2 000 – 1 : 2 500 baby girls. Chromosomal abnormalities in this syndrome manifest as the absence of one of two chromosomes X: deletion of part of one chromosome X or translocation within the same chromosome X, various mosaic variants are also possible when the chromosome set is partially preserved. Only 1 % of embryos with karyotype 45, XO reach the fetal stage, others do not reach 28 weeks of gestation, about 10% of spontaneous abortions are associated with X mono-somy.