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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Veröffentlicht in:	BioMed research international 2020, Vol.2020 (2020), p.1-6
Hauptverfasser:	Tan, Huay Lin, Ankathil, Ravindran, Ibrahim, Wan Pauzi Wan, Lai, Kok-Song, Lim, Swee-Hua Erin, Faten, Siti Aisyah, Maran, Sathiya, Gan, Siew Hua
Format:	Artikel
Sprache:	eng
Schlagworte:	Amplification Cardiac patients Care and treatment Chromosome 22 Chromosomes Defects Deletion Deoxyribonucleic acid Diagnosis Diagnostic systems DiGeorge Syndrome - diagnosis DiGeorge Syndrome - epidemiology DiGeorge Syndrome - genetics DNA Echocardiography Female Fluorescence Fluorescence in situ hybridization Gene amplification Gene Deletion Genetic analysis Genetic disorders Genomes Health aspects Heart Homologous recombination Homology Humans Hybridization In Situ Hybridization, Fluorescence Incidence Infant, Newborn Laboratories Malaysia Male Methods Molecular Diagnostic Techniques - methods Multiplex Polymerase Chain Reaction - methods Multiplexing Patients Phenotypes Pilot Projects Risk factors Substrates
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