Microarrays, Postnatal Analysis, and Implications for Growth Monitoring



Numerous genetic diseases associated with growth abnormalities result from cytogenetic aberrations. The development of microarray-based molecular cytogenetic techniques has enabled the identification of previously unrecognized genetic disorders, expanded the phenotypic spectrum, refined the critical regions of recognizable genetic disorders, and elucidated the etiologies of known clinical conditions. Comparative genomic hybridization (CGH)-based methodologies, which directly compare a patient to a control sample, are increasingly being used for clinical applications; numerous prospective studies show that CGH-based microarrays can identify unbalanced chromosome abnormalities in 12–18% of individuals with previous normal karyotyping analysis and idiopathic physical birth defects and/or developmental disabilities. More recently, single nucleotide polymorphism (SNP)-based microarrays, in which patient DNA is hybridized to a microarray and compared by computer analysis to a pool of normal individuals, have been introduced for clinical applications. SNP-based microarrays can detect, in addition to copy-number changes, loss of heterozygosity associated with uniparental disomies, nearly all of which are associated with growth abnormalities. Because these tests are not reliant on clinical suspicion of a specific condition, they provide an objective, comprehensive means of genetic diagnosis. In addition, because of their molecular-level resolution, microarrays have the potential to identify small abnormalities that may elucidate causative genes for clinical features and lead to the development of targeted gene therapies.


Chromosome Abnormality Comparative Genomic Hybridization Angelman Syndrome Single Nucleotide Polymorphism Array Uniparental Disomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Microarray-based comparative genomic hybridization


Angelman syndrome


Bacterial artificial chromosome


Base pairs


Beckwith-Wiedemann syndrome


Comparative genomic hybridization


Copy-number neutral loss of heterozygosity


Fluorescence in situ hybridization


Global developmental delay


Intrauterine growth retardation


Thousand base pairs


Loss of heterozygosity


Million base pairs


Mental retardation


Prader–Willi syndrome


Single nucleotide polymorphism


Silver–Russell syndrome


Uniparental disomy


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© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Signature Genomic LaboratoriesSpokaneUSA

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