Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method

BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) is the most common form of deletion disorder in humans. Low copy repeats flanking the 22q11.2 region confers a substrate for nonallelic homologous recombination (NAHR) events leading to rearrangements which have been reported to be associated wit...

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Detalles Bibliográficos
Autores principales: Maran, Sathiya, Faten, Siti Aisyah, Lim, Swee-Hua Erin, Lai, Kok-Song, Ibrahim, Wan Pauzi Wan, Ankathil, Ravindran, Gan, Siew Hua, Tan, Huay Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539069/
https://www.ncbi.nlm.nih.gov/pubmed/33062692
http://dx.doi.org/10.1155/2020/6945730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539069/
https://www.ncbi.nlm.nih.gov/pubmed/33062692
http://dx.doi.org/10.1155/2020/6945730

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