Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

BS Carlotto, D Deconte, BL Diniz, PR Silva… - Revista Paulista de …, 2023 - SciELO Brasil
Objective: The aim of this study was to sum up and characterize all Williams-Beuren
syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its …

[HTML][HTML] Cardiovascular Diseases in Public Health: Chromosomal Abnormalities in Congenital Heart Disease Causing Sudden Cardiac Death in Children

C Salzillo, M La Verde, A Imparato, R Molitierno… - Medicina, 2024 - mdpi.com
Chromosomal abnormalities (CAs) are changes in the number or structure of chromosomes,
manifested as alterations in the total number of chromosomes or as structural abnormalities …

Diagnosis of 22q11. 2 deletion syndrome in children with congenital heart diseases and facial dysmorphisms

M Agarwal, V Kumar, A Dwivedi - Medical Journal Armed Forces India, 2023 - Elsevier
Abstract Background Congenital heart diseases (CHDs) are the leading cause of birth
defects. Approximately, 30% of CHDs are related to genetic syndromes accompanied by …