CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Turner Syndrome: Identification of variations in the chromosomal constitution and its consequences on the clinical expression in a large number of patients
Autor/es:
KESELMAN ANA; VENARA MARCELA; BOYWITT ADRIANA; BERGADÁ CÉSAR; DEL REY GRACIELA; ESCOBAR MARÍA EUGENIA; COPELLI SILVIA; CASALI BÁRBARA; HEINRICH JUAN JORGE; MARTÍNEZ ALICIA; GRYNGARTEN MIRTA; ARCARI ANDREA; DE BELLIS RODOLFO; COCO ROBERTO
Lugar:
Mérida
Reunión:
Congreso; XXIX Congreso SLEP - Sociedad Latinoamericana de Endocrinología Pediátrica; 2020
Institución organizadora:
Sociedad Latinoamericana de Endocrinología Pediátrica
Resumen:
Introduction: Turner Syndrome (TS) is caused by total or partial absence of one of sex chromosomes. Clinically is characterized by short stature, typical somatic features and gonadal dysgenesis.Objective: To identify critical regions of X and Y chromosomes in a cohort of 630 girls with ST.Methods: This is a retrospective study. 630 girls with short stature, TS phenotype and gonadal dysgenesis without ambiguos genitalia were evaluated. Cytogenetic studiesCytogenetics analysis were performed. At the beginning the metaphases were analyzed with conventional methods, and then by banding techniques, and high resolution. In special cases, FISH and molecular analysis were applied. In cases with strong clinical suspicion of TS, 100 metaphases were analyzed to put in evidence mosaicisms with low level 45,X cells.Molecular studies of Y chromosome:PCR amplification of specific sequences of the Y chromosome (SRY,DYZ1,DYZ3 and AMGL) were performed. Molecular cytogeneticFluorescence in situ hybridization (FISH) studies were carried out on metaphase chromosome and interphase nuclei (Pinkel et al,1986) using: a) DXZ1 Spectrum green/red probe to centromere region X(p11.1-q11.1).b) DYZ3 Spectrum red/green probe to centromere region Y(p11.1-q11.1).c) Painting X and Y Chromosomed)Telomeric Xpter