Sindrome de Turner: variaciones en la constitución cromosómica y sus efectos en la expresión fenotípica

DEL REY G

Revista del Hospital de Niños de Buenos Aires

Comité Editorial Hospital de Niños "Ricardo Gutiérrez"

Lugar: Buenos Aires; Año: 2019 vol. 60 p. 230 - 235

2314-1239

Turner Syndrome is a common chromosomal disorder caused by total or partial haploinsufficiency of one of the sex chromosomes. Incidence: 1: 2500. Clinically is characterized by short stature, several typical somatic features, and gonadal dysgenesis.This is a retrospective study involving 630 girls with Turner phenotype and abnormal karyotype, evaluated at the Endocrinology Division of Children´s Hospital ?Ricardo Gutiérrez? between 1968 and 2018. The karyotype was done in leucocytes from peripheral blood and the metaphases were analyzed at the beginning with standard methodology and then with different banding techniques, standard and high resolution. In special cases, the FISH technique and the molecular analysis of the X and Y chromosomes were applied. The number of metaphases analyzed also changed with time, allowing the finding of more than one cellular line. In cases where the clinical suspicion was strong, the analysis of 100 metaphases allowed us to put in evidence low mosaicisms containing the 45,X line.In our study the monosomy of sexual chromosome 45, X was the most frequent following the numerical and structural mosaics of one of the sex chromosomes. The different chromosomal constitutions have contributed to establish in our patients phenotype-karyotype correlation with specific regions of the sex chromosomes.Key words: Tuner syndrome, phenotype, genotype, Argentina.