Abstract
Background Microdeletion syndromes are characterized by small (< 5Mb) chromosomal deletion in which one or more genes are involved. They are frequently associated with multiple congenital anomalies. The phenotype is the result of haploin sufficiency of genes in the critical interval. Fluorescent In-Situ Hybridization (FISH), Multiplex Ligationdependent Probe Amplification (MLPA), Quantitative Fluorescent Polymerase Chain Reaction (QFPCR) and Array (microarray) Comparative Genomic Hybridization (aCGH) techniques are commonly used for precise genetic diagnosis of microdeletion syndromes.
Highlights
Microdeletion syndromes are characterized by small (< 5Mb) chromosomal deletion in which one or more genes are involved
Fluorescent In-Situ Hybridization (FISH), Multiplex Ligationdependent Probe Amplification (MLPA), Quantitative Fluorescent Polymerase Chain Reaction (QFPCR) and Array Comparative Genomic Hybridization techniques are commonly used for precise genetic diagnosis of microdeletion syndromes
Microarray was picked up copy number variation (CNV) with or without copy neutral loss of heterozygosity (LOH) in approximately 70% of cases, mostly involving several chromosome loci
Summary
Microdeletion syndromes are characterized by small (< 5Mb) chromosomal deletion in which one or more genes are involved. They are frequently associated with multiple congenital anomalies. The phenotype is the result of haploin sufficiency of genes in the critical interval. Fluorescent In-Situ Hybridization (FISH), Multiplex Ligationdependent Probe Amplification (MLPA), Quantitative Fluorescent Polymerase Chain Reaction (QFPCR) and Array (microarray) Comparative Genomic Hybridization (aCGH) techniques are commonly used for precise genetic diagnosis of microdeletion syndromes
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