[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].

@article{Seo2010IdentificationOA,
  title={[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].},
  author={Eul-Ju Seo and Kyung Ran Jun and Han-Wook Yoo and Hanik K. Yoo and Jin-Ok Lee},
  journal={The Korean journal of laboratory medicine},
  year={2010},
  volume={30 1},
  pages={
          70-5
        }
}
BACKGROUND The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism. In most cases, the microdeletion spans a 1.6-Mb region between low-copy repeats (LCRs). We identified a novel 4.0- Mb deletion using oligonucleotide array comparative genomic hybridization (array CGH) in monozygotic twin sisters. METHODS G-banded chromosome analysis was performed in the twins and their parents. Highresolution… 
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4 Citations

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Clinical Applications of Chromosomal Microarray Analysis
TLDR
Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs.
Clinical Applications of Chromosomal Microarray Analysis
TLDR
Although CMA has distinct advantages, there are several limitations, including its inability to detect balanced chromosomal rearrangements and low-level mosaicism, its interpretation of copy number variants of uncertain clinical significance, and significantly higher costs.
Advances in whole-genome genetic testing: from chromosomes to microarrays.
  • P. Crotwell, H. Hoyme
  • Biology, Medicine
    Current problems in pediatric and adolescent health care
  • 2012
PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior.

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