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. 2026 Feb 22;17(2):248. doi: 10.3390/genes17020248
CES Cat Eye Syndrome
CESRR Cat Eye Syndrome Repeat Region
CGH Comparative Genomic Hybridization
DGS DiGeorge Syndrome
FISH Fluorescence In Situ Hybridization
IVIG Intravenous Immunoglobulin
IR Intermediate Region
LCR Low-Copy Repeats
MLPA Multiplex Ligation-Dependent Probe Amplification
NAHR Non-Allelic Homologous Recombination
OGM Optical Genome Mapping
PATRRs Palindromic AT-Rich Repeats
qPCR Quantitative Polymerase Chain Reaction
SNP Single Nucleotide Polymorphism
SCI Severe Combined Immunodeficiency
VCFS Velocardiofacial Syndrome
WES Whole-Exome Sequencing
WGS Whole-Genome Sequencing