RECHERCHES SCIENTIFIQUES

CYTOGÉNÉTIQUE DU SYNDROME DE TURNER (A propos de 20 cas)

Référence951
Année2015
TypeThèse
Lien document
AuteurEssabouni N
DisciplineLaboratoire
EncadrantOuldim K

Turner syndrome is a female chromosomal abnormality which concerns 1/2500 girls at births, and is defined by the association of malformation and dysmorphic syndrome in which the principal elements are the small sized and gonadic digenesis, in female phenotype subjects with a complete or partial absence of one of the two X chromosomes in all or part of the cell clones.In this work we report in the first part, a study of 20 cases of patients with turner syndrome in which the diagnosis was confirmed by cytogenetic.The small sized element was the most frequently consulted case with 50%, the discovery age was within 45% of cases between 10 and 20 years and the classic chromosome formula 45,X prevailed with a prevalence of 55%.We discussed in the second part, our results comparing them with the literature data