PubMed · 6651945
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
L Vega-Franco. 1983. [Intestinal biopsy: indication and risks].. https://pubmed.ncbi.nlm.nih.gov/6651945/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Explore the source record for details and available documents.
Diagnostic evaluation of muscle disease has gained considerably from the expanding development in molecular science in the last decade. This paper gives an overview of current diagnostic procedures in the evaluation of patients with muscle disease. The role of the clinical examination, genetic and serological tests, neurophysiological examination, muscle imaging, muscle histology and exercise tests for the diagnosis of muscle disease are discussed.
Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined. Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients.