دراسة الترابط بين النمط النووي و النمط الظاهري عند مرضى متلازمة تورنر

الملخص EN

Objective : turner syndrome (TS) is a common genetic disorder caused by abnormalities on the x chromosome.

the aim of this research was to study the extent of the association between the karyotype and the phenotype in a sample of Syrian children with turner syndrome at the university children’s hospital in Damascus.

methods : we studied females diagnosed with TS at university children hospital in Damascus between 2013 and 2020.

patients were classified based upon karyotype into females with classical monosomy 45,x (group a), and females with other X-chromosome abnormalities (mosaic 45, x/46, xx, Xq isochromosomes, Xp or Xq deletion) (group b).

clinical features of the two groups were analyzed.

results : the study included 23 patients, 14 patients (60.8%) were diagnosed with 45 monosomy, x abnormalities and the rest with other x abnormalities.

only 5 patients (35.7%) were diagnosed in infancy and the remainder during or after childhood.

short stature was overall in group b versus 71.4% in group a.

three patients suffered from difficulty in school performance (37.5%) in group a compared with (55.5%) in group b (p=0.45).

cardiovascular abnormalities were higher in group a (p=0.73).

renal defects were (21.43%) in group a compared to (11.11%), while neurological, auditory and visual abnormalities were absent in both groups.

conclusions : this study suggests that karyotype differences may affect the phenotype of TS.

therefore, chromosomal analysis of all suspected cases of turner syndrome should be performed immediately in childhood in order to design an appropriate management plan early in life.