Introdução: A Síndrome de Turner (ST) é uma das anomalias cromossômicas mais
comuns, afetando uma em 2.500 nativivas. O cariótipo típico é o 45,X, seguido de
anormalidades estruturais ou numéricas dos cromossomos X ou Y na forma universal
ou em mosaico. Em razão da alta letalidade de fetos com ...
Turner's syndrome (TS) is one of the most common sex chromosome disorders caused by numeric or structural abnormalities of the X chromosome. A case of TS and Systemic Sclerosis (SSc) is reported, along with a summary of all associated TS/autoimmune diseases described in English literature from 1948 to 20...
The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the pres...
Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de mosaicismos y otras alteraciones estructurales del cromosoma X o Y; está presente en 1 de 2500 nacidas vivas. Objetivo: Describir las variantes...
Síndrome de Turner/genética,
Genotipo,
Ecuador,
Cromosomas Humanos X,
Cariotipificación,
Estudios Transversales,
Estudios Retrospectivos,
Fenotipo,
Monosomía,
Análisis Citogenético,
Hibridación Fluorescente in Situ,
Reacción en Cadena de la Polimerasa,
Edad de Inicio,
Síndrome de Turner/clasificación
Introducción: el síndrome de Turner es una enfermedad genética caracterizada por la pérdida total o parcial de un cromosoma X, siendo sus características fundamentales la talla baja, la disgenesia gonadal y hallazgos fenotípicos característicos. Tiene una amplia variabilidad en su forma de present...
ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings wer...
Abstract Objectives: to evaluate the bone mass in prepubertal patients with Turner Syndrome (TS) according to height age (HA) and verify the influence of karyotype and adiposity. Methods: retrospective and analytical study of prepubertal TS patients. The variables analyzed were: karyotype, age at bone ...
Abstract Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. Objective: To associate the cyto...
ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical ge...
